#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
IL22RA1	58985	broad.mit.edu	37	1	24460838	24460838	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:24460838C>T	ENST00000270800.1	-	4	432	c.394G>A	c.(394-396)Gtg>Atg	p.V132M		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	132					cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)	integral component of membrane (GO:0016021)	interferon receptor activity (GO:0004904)			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		ATCGATCTCACTTTGGAGATA	0.507																																						uc001biq.1		NA																	0				skin(1)	1						c.(394-396)GTG>ATG		interleukin 22 receptor, alpha 1 precursor							105.0	95.0	99.0					1																	24460838		2203	4300	6503	SO:0001583	missense	58985					integral to membrane	interferon receptor activity	g.chr1:24460838C>T	AF286095	CCDS247.1	1p36.11	2009-10-06	2002-12-02	2002-12-06	ENSG00000142677	ENSG00000142677		"""Interleukins and interleukin receptors"""	13700	protein-coding gene	gene with protein product		605457	"""interleukin 22 receptor"""	IL22R		10875937	Standard	NM_021258		Approved	CRF2-9	uc001biq.2	Q8N6P7	OTTHUMG00000003041	ENST00000270800.1:c.394G>A	1.37:g.24460838C>T	ENSP00000270800:p.Val132Met					IL22RA1_uc010oeg.1_Missense_Mutation_p.V24M|IL22RA1_uc009vrb.1_Translation_Start_Site|IL22RA1_uc010oeh.1_Missense_Mutation_p.V132M	p.V132M	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)	4	433	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	132			Extracellular (Potential).		A8K839|B2R9Y9|Q9HB22	Missense_Mutation	SNP	ENST00000270800.1	37	c.394G>A	CCDS247.1	.	.	.	.	.	.	.	.	.	.	C	9.217	1.032452	0.19590	.	.	ENSG00000142677	ENST00000270800	T	0.42131	0.98	4.8	2.92	0.33932	Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	0.367466	0.28371	N	0.015596	T	0.31796	0.0808	L	0.36672	1.1	0.24048	N	0.996056	P;D	0.53745	0.913;0.962	B;B	0.43809	0.369;0.432	T	0.12477	-1.0546	10	0.48119	T	0.1	-11.7376	7.3387	0.26625	0.0:0.7954:0.0:0.2046	.	24;132	B4E2V9;Q8N6P7	.;I22R1_HUMAN	M	132	ENSP00000270800:V132M	ENSP00000270800:V132M	V	-	1	0	IL22RA1	24333425	0.810000	0.29049	0.988000	0.46212	0.078000	0.17371	1.054000	0.30455	0.448000	0.26722	-0.258000	0.10820	GTG		0.507	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008412.1			27	25	0	0	0	0	27	25				
ZNF362	149076	broad.mit.edu	37	1	33745945	33745945	+	Silent	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:33745945C>T	ENST00000539719.1	+	5	740	c.570C>T	c.(568-570)tcC>tcT	p.S190S	ZNF362_ENST00000373428.5_Silent_p.S190S	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	190					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(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCCCCAAGTCCGAACGCGGCC	0.657																																					Pancreas(162;1431 2676 35353 38425)	uc001bxc.1		NA																	0					0						c.(568-570)TCC>TCT		zinc finger protein 362							34.0	35.0	34.0					1																	33745945		2203	4300	6503	SO:0001819	synonymous_variant	149076				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33745945C>T		CCDS377.1	1p35.1	2013-01-08			ENSG00000160094	ENSG00000160094		"""Zinc fingers, C2H2-type"""	18079	protein-coding gene	gene with protein product	"""rotund homolog (Drosophila)"""						Standard	NM_152493		Approved	FLJ25476, lin-29, RN	uc001bxc.1	Q5T0B9	OTTHUMG00000004124	ENST00000539719.1:c.570C>T	1.37:g.33745945C>T							p.S190S	NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN			5	740	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	190					Q8WYU4	Silent	SNP	ENST00000539719.1	37	c.570C>T	CCDS377.1																																																																																				0.657	ZNF362-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011857.2	NM_152493		18	52	0	0	0	0	18	52				
SMAP2	64744	broad.mit.edu	37	1	40839835	40839835	+	IGR	SNP	G	G	C			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:40839835G>C								COL9A2 (56869 upstream) : SMAP2 (22671 downstream)																							GTACCAGGCTGTCCTGGCCAA	0.662																																						uc001cfj.2		NA																	0					0						c.(43-45)GTC>CTC		small ArfGAP2							71.0	61.0	64.0					1																	40839835		2203	4300	6503	SO:0001628	intergenic_variant	64744				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding	g.chr1:40839835G>C																													1.37:g.40839835G>C						SMAP2_uc010ojh.1_Missense_Mutation_p.V15L|SMAP2_uc001cfk.2_5'Flank	p.V15L	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)		1	108	+	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	15			Arf-GAP.			Missense_Mutation	SNP		37	c.43G>C		.	.	.	.	.	.	.	.	.	.	G	13.45	2.241353	0.39598	.	.	ENSG00000084070	ENST00000435168;ENST00000372718	T	0.41400	1.0	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000001	T	0.30885	0.0779	N	0.21617	0.685	0.80722	D	1	B	0.27192	0.171	B	0.29942	0.109	T	0.08806	-1.0704	10	0.22706	T	0.39	-0.8071	14.3399	0.66619	0.0:0.0:1.0:0.0	.	15	Q8WU79	SMAP2_HUMAN	L	15	ENSP00000361803:V15L	ENSP00000361803:V15L	V	+	1	0	SMAP2	40612422	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.306000	0.65756	2.434000	0.82447	0.563000	0.77884	GTC	0	0.662									12	22	0	0	0	0	12	22				
PTPRF	5792	broad.mit.edu	37	1	44085423	44085423	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:44085423C>T	ENST00000359947.4	+	29	5345	c.5005C>T	c.(5005-5007)Cgg>Tgg	p.R1669W	PTPRF_ENST00000372414.3_Missense_Mutation_p.R1669W|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Missense_Mutation_p.R1660W|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1660W|PTPRF_ENST00000422171.2_Missense_Mutation_p.R1028W	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1669	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTTCAAGAACCGGCTGGTGAA	0.582																																						uc001cjr.2		NA																	0				ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10						c.(5005-5007)CGG>TGG		protein tyrosine phosphatase, receptor type, F							130.0	108.0	116.0					1																	44085423		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44085423C>T	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.5005C>T	1.37:g.44085423C>T	ENSP00000353030:p.Arg1669Trp					PTPRF_uc001cjs.2_Missense_Mutation_p.R1660W|PTPRF_uc001cju.2_Missense_Mutation_p.R1058W|PTPRF_uc009vwt.2_Missense_Mutation_p.R1229W|PTPRF_uc001cjv.2_Missense_Mutation_p.R1140W|PTPRF_uc001cjw.2_Missense_Mutation_p.R895W	p.R1669W	NM_002840	NP_002831	P10586	PTPRF_HUMAN			29	5345	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1669			Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.5005C>T	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.293520|4.293520	0.80914|0.80914	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407	.|T;T;T;T;T;T	.|0.35973	.|1.28;1.28;1.28;1.28;1.28;1.28	5.2|5.2	5.2|5.2	0.72013|0.72013	.|Protein-tyrosine phosphatase, receptor/non-receptor type (3);	.|0.000000	.|0.34603	.|N	.|0.003835	T|T	0.75953|0.75953	0.3920|0.3920	H|H	0.99357|0.99357	4.53|4.53	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|1.0;1.0;1.0;0.999;1.0	D|D	0.85349|0.85349	0.1100|0.1100	5|10	.|0.87932	.|D	.|0	.|.	14.4696|14.4696	0.67506|0.67506	0.1473:0.8527:0.0:0.0|0.1473:0.8527:0.0:0.0	.|.	.|1314;1028;1246;1660;1669	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586	.|.;.;.;.;PTPRF_HUMAN	L|W	1052;1093|1669;1660;1669;1660;1028;741	.|ENSP00000353030:R1669W;ENSP00000398822:R1660W;ENSP00000361491:R1669W;ENSP00000361490:R1660W;ENSP00000387885:R1028W;ENSP00000361484:R741W	.|ENSP00000353030:R1669W	P|R	+|+	2|1	0|2	PTPRF|PTPRF	43858010|43858010	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	4.662000|4.662000	0.61525|0.61525	2.811000|2.811000	0.96726|0.96726	0.555000|0.555000	0.69702|0.69702	CCG|CGG		0.582	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			12	65	0	0	0	0	12	65				
ST6GALNAC3	256435	broad.mit.edu	37	1	76877873	76877873	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:76877873A>G	ENST00000328299.3	+	3	542	c.394A>G	c.(394-396)Agc>Ggc	p.S132G	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	132					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						GTCCCATACCAGCGTTCCTCT	0.428																																						uc001dhh.2		NA																	0				ovary(3)|skin(2)	5						c.(394-396)AGC>GGC		sialyltransferase 7C isoform 1							128.0	123.0	125.0					1																	76877873		2203	4300	6503	SO:0001583	missense	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:76877873A>G		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.394A>G	1.37:g.76877873A>G	ENSP00000329214:p.Ser132Gly					ST6GALNAC3_uc001dhg.3_Missense_Mutation_p.S132G|ST6GALNAC3_uc010orh.1_Missense_Mutation_p.S67G	p.S132G	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN			3	557	+			132			Lumenal (Potential).		Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	37	c.394A>G	CCDS672.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.696149	0.88830	.	.	ENSG00000184005	ENST00000394994;ENST00000328299;ENST00000394993;ENST00000415813	T	0.34472	1.36	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.55561	0.1928	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.85130	0.988;0.997;0.997	T	0.61559	-0.7038	10	0.87932	D	0	-15.6377	16.0034	0.80327	1.0:0.0:0.0:0.0	.	67;132;132	B4DM98;Q8NDV1;Q8NDV1-2	.;SIA7C_HUMAN;.	G	132;132;131;66	ENSP00000329214:S132G	ENSP00000329214:S132G	S	+	1	0	ST6GALNAC3	76650461	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.930000	0.92872	2.371000	0.80710	0.533000	0.62120	AGC		0.428	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		23	69	0	0	0	0	23	69				
NEXN	91624	broad.mit.edu	37	1	78392266	78392266	+	Silent	SNP	C	C	G			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:78392266C>G	ENST00000334785.7	+	7	841	c.657C>G	c.(655-657)ctC>ctG	p.L219L	NEXN_ENST00000457030.1_Silent_p.L205L|NEXN_ENST00000330010.8_Silent_p.L155L	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GACCATCTCTCAAGGAAGCAA	0.313																																						uc001dic.3		NA																	0				ovary(2)	2						c.(655-657)CTC>CTG		nexilin (F actin binding protein)							124.0	121.0	122.0					1																	78392266		1836	4087	5923	SO:0001819	synonymous_variant	91624				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle	g.chr1:78392266C>G	AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.657C>G	1.37:g.78392266C>G						NEXN_uc001dia.3_Silent_p.L205L|NEXN_uc009wcb.1_Silent_p.L141L|NEXN_uc001dib.3_Silent_p.L155L|NEXN_uc001did.1_Silent_p.L129L|NEXN_uc001dif.1_Silent_p.L111L	p.L219L	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN		Colorectal(170;0.114)	7	954	+			219			Glu-rich.			Silent	SNP	ENST00000334785.7	37	c.657C>G	CCDS41351.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.467367	0.01053	.	.	ENSG00000162614	ENST00000342754	.	.	.	5.46	1.22	0.21188	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.4354	2.8155	0.05454	0.2393:0.4839:0.1273:0.1494	.	.	.	.	X	119	.	.	S	+	2	0	NEXN	78164854	0.997000	0.39634	1.000000	0.80357	0.081000	0.17604	0.539000	0.23175	0.357000	0.24183	0.655000	0.94253	TCA		0.313	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573		22	61	0	0	0	0	22	61				
ABCA4	24	broad.mit.edu	37	1	94543340	94543340	+	Missense_Mutation	SNP	C	C	T	rs145614671		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:94543340C>T	ENST00000370225.3	-	11	1546	c.1460G>A	c.(1459-1461)cGg>cAg	p.R487Q	ABCA4_ENST00000535735.1_Missense_Mutation_p.R487Q	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	487					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.R487L(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTGGCTTTCCCGAGGGCCCTT	0.502																																						uc001dqh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12						c.(1459-1461)CGG>CAG		ATP-binding cassette, sub-family A member 4		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	168.0	163.0	165.0		1460	-9.8	0.0	1	dbSNP_134	165	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCA4	NM_000350.2	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	487/2274	94543340	2,13004	2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94543340C>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.1460G>A	1.37:g.94543340C>T	ENSP00000359245:p.Arg487Gln					ABCA4_uc010otn.1_Missense_Mutation_p.R487Q	p.R487Q	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	11	1564	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	487			Extracellular.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.1460G>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	2.742	-0.261906	0.05791	2.27E-4	1.16E-4	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.85013	-1.93;-1.93	5.24	-9.79	0.00494	.	1.741720	0.02828	N	0.126393	T	0.49966	0.1588	N	0.16307	0.4	0.09310	N	1	B;B	0.11235	0.004;0.0	B;B	0.09377	0.004;0.001	T	0.46048	-0.9219	10	0.22706	T	0.39	.	11.8209	0.52238	0.0:0.1174:0.3559:0.5266	.	487;487	F5H6E5;P78363	.;ABCA4_HUMAN	Q	487	ENSP00000359245:R487Q;ENSP00000437682:R487Q	ENSP00000359245:R487Q	R	-	2	0	ABCA4	94315928	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.491000	0.02302	-2.015000	0.00947	-1.994000	0.00447	CGG		0.502	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		55	122	0	0	0	0	55	122				
PRPF38B	55119	broad.mit.edu	37	1	109242023	109242023	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:109242023G>A	ENST00000370025.4	+	6	1291	c.1022G>A	c.(1021-1023)cGa>cAa	p.R341Q	PRPF38B_ENST00000370021.1_Missense_Mutation_p.R230Q	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	341	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		AGTCGCAGTCGAAGTCGTGAT	0.488																																						uc001dvv.3		NA																	0					0						c.(1021-1023)CGA>CAA		PRP38 pre-mRNA processing factor 38 (yeast)							63.0	58.0	60.0					1																	109242023		2203	4300	6503	SO:0001583	missense	55119				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:109242023G>A	AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"""				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.1022G>A	1.37:g.109242023G>A	ENSP00000359042:p.Arg341Gln					PRPF38B_uc001dvw.3_Missense_Mutation_p.R230Q|PRPF38B_uc010ouz.1_Missense_Mutation_p.R144Q	p.R341Q	NM_018061	NP_060531	Q5VTL8	PR38B_HUMAN		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)	6	1304	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	341			Arg-rich.		Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Missense_Mutation	SNP	ENST00000370025.4	37	c.1022G>A	CCDS788.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837607	0.50951	.	.	ENSG00000134186	ENST00000370025;ENST00000370021	T;T	0.29142	1.58;2.59	5.55	5.55	0.83447	.	0.179411	0.47852	D	0.000211	T	0.11922	0.0290	N	0.14661	0.345	0.43485	D	0.995715	D	0.53462	0.96	B	0.39503	0.301	T	0.02553	-1.1142	10	0.35671	T	0.21	.	19.4913	0.95050	0.0:0.0:1.0:0.0	.	341	Q5VTL8	PR38B_HUMAN	Q	341;230	ENSP00000359042:R341Q;ENSP00000359038:R230Q	ENSP00000359038:R230Q	R	+	2	0	PRPF38B	109043546	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.963000	0.76055	2.610000	0.88304	0.591000	0.81541	CGA		0.488	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061		22	42	0	0	0	0	22	42				
TNN	63923	broad.mit.edu	37	1	175048747	175048747	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:175048747G>A	ENST00000239462.4	+	3	801	c.688G>A	c.(688-690)Gag>Aag	p.E230K		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	230	EGF-like 3.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGACTGCAGCGAGAAGCGCTG	0.677																																						uc001gkl.1		NA																	0				large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(688-690)GAG>AAG		tenascin N precursor							20.0	15.0	17.0					1																	175048747		2192	4294	6486	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175048747G>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.688G>A	1.37:g.175048747G>A	ENSP00000239462:p.Glu230Lys					TNN_uc010pmx.1_Missense_Mutation_p.E230K	p.E230K	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	3	801	+		Breast(1374;0.000962)	230			EGF-like 3.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.688G>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406629	0.62399	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.03181	4.02	4.7	4.7	0.59300	.	0.349316	0.32093	N	0.006582	T	0.13030	0.0316	L	0.60067	1.865	0.35157	D	0.770274	D;D	0.71674	0.993;0.998	P;D	0.63381	0.703;0.914	T	0.25012	-1.0144	10	0.25106	T	0.35	.	17.5932	0.88003	0.0:0.0:1.0:0.0	.	230;230	B3KXB6;Q9UQP3	.;TENN_HUMAN	K	230	ENSP00000239462:E230K	ENSP00000239462:E230K	E	+	1	0	TNN	173315370	0.995000	0.38212	1.000000	0.80357	0.609000	0.37215	2.392000	0.44433	2.321000	0.78463	0.491000	0.48974	GAG		0.677	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		6	4	0	0	0	0	6	4				
DENND1B	163486	broad.mit.edu	37	1	197482029	197482029	+	IGR	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:197482029C>T								CRB1 (34444 upstream) : DENND1B (39355 downstream)																							TCATCATCATCTTCATCATCA	0.373																																						uc010ppe.1		NA																	0					0						c.(1510-1512)GAT>AAT		DENN/MADD domain containing 1B isoform 1							125.0	105.0	111.0					1																	197482029		2203	4299	6502	SO:0001628	intergenic_variant	163486					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr1:197482029C>T																													1.37:g.197482029C>T						DENND1B_uc010ppf.1_RNA	p.D504N	NM_001142795	NP_001136267	Q6P3S1	DEN1B_HUMAN			20	1848	-			Error:Variant_position_missing_in_Q6P3S1_after_alignment						Missense_Mutation	SNP		37	c.1510G>A		.	.	.	.	.	.	.	.	.	.	C	14.37	2.513698	0.44763	.	.	ENSG00000213047	ENST00000391979;ENST00000542760;ENST00000450419	T	0.32753	1.44	5.2	4.27	0.50696	.	0.462153	0.20509	U	0.090922	T	0.36303	0.0962	M	0.62723	1.935	0.80722	D	1	B	0.28512	0.214	B	0.35655	0.207	T	0.11690	-1.0577	10	0.26408	T	0.33	.	14.9756	0.71269	0.1443:0.8557:0.0:0.0	.	524	Q6P3S1-5	.	N	164;524;504	ENSP00000375839:D164N	ENSP00000375839:D164N	D	-	1	0	DENND1B	195748652	1.000000	0.71417	0.076000	0.20297	0.014000	0.08584	2.842000	0.48230	1.289000	0.44618	0.655000	0.94253	GAT	0	0.373									7	36	0	0	0	0	7	36				
MARC2	54996	broad.mit.edu	37	1	220955133	220955133	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:220955133G>A	ENST00000366913.3	+	7	1096	c.898G>A	c.(898-900)Gat>Aat	p.D300N	MARC2_ENST00000472447.1_3'UTR|MARC2_ENST00000359316.2_Intron	NM_017898.3	NP_060368.2	Q969Z3	MARC2_HUMAN	mitochondrial amidoxime reducing component 2	300	MOSC. {ECO:0000255|PROSITE- ProRule:PRU00670}.				detoxification of nitrogen compound (GO:0051410)|nitrate metabolic process (GO:0042126)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|nitrate reductase activity (GO:0008940)|pyridoxal phosphate binding (GO:0030170)										CCGCCTGTGTGATCCTTCTGA	0.393																																						uc001hmq.2		NA																	0					0						c.(898-900)GAT>AAT		MOCO sulphurase C-terminal domain containing 2							170.0	168.0	168.0					1																	220955133		2203	4300	6503	SO:0001583	missense	54996					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding	g.chr1:220955133G>A		CCDS1525.1	1q41	2011-11-02	2011-11-02	2011-11-02	ENSG00000117791	ENSG00000117791			26064	protein-coding gene	gene with protein product		614127	"""MOCO sulphurase C-terminal domain containing 2"""	MOSC2		11886751	Standard	NM_017898		Approved	FLJ20605	uc001hmq.3	Q969Z3	OTTHUMG00000037354	ENST00000366913.3:c.898G>A	1.37:g.220955133G>A	ENSP00000355880:p.Asp300Asn					MOSC2_uc001hmr.2_Missense_Mutation_p.D300N|MOSC2_uc009xdx.2_Intron	p.D300N	NM_017898	NP_060368	Q969Z3	MOSC2_HUMAN		GBM - Glioblastoma multiforme(131;0.00499)|all cancers(67;0.204)	7	1096	+			300			MOSC.		B2D0R5|D3DTB3|Q0JSK7|Q5VT67|Q5VXC7|Q7L317|Q9H066|Q9NWU0	Missense_Mutation	SNP	ENST00000366913.3	37	c.898G>A	CCDS1525.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271905	0.80469	.	.	ENSG00000117791	ENST00000366913	T	0.21031	2.03	5.97	5.06	0.68205	Pyruvate kinase-like, insert domain (1);Molybdenum cofactor sulfurase, C-terminal (2);	0.317628	0.30840	N	0.008777	T	0.33000	0.0848	M	0.83118	2.625	0.44539	D	0.997497	P	0.40660	0.726	B	0.43274	0.414	T	0.14282	-1.0478	10	0.40728	T	0.16	-13.1633	12.419	0.55510	0.0786:0.0:0.9214:0.0	.	300	Q969Z3	MOSC2_HUMAN	N	300	ENSP00000355880:D300N	ENSP00000355880:D300N	D	+	1	0	MOSC2	219021756	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	3.447000	0.52936	1.535000	0.49220	0.591000	0.81541	GAT		0.393	MARC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090911.1	NM_017898		18	88	0	0	0	0	18	88				
ZNF670	93474	broad.mit.edu	37	1	247201303	247201303	+	Silent	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:247201303G>A	ENST00000366503.2	-	4	776	c.618C>T	c.(616-618)ttC>ttT	p.F206F		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			TTGAATAATTGAAGGCTTTAT	0.343																																						uc001icd.1		NA																	0				ovary(1)	1						c.(616-618)TTC>TTT		zinc finger protein 670							72.0	73.0	73.0					1																	247201303		2203	4300	6503	SO:0001819	synonymous_variant	93474				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247201303G>A		CCDS31087.1	1q44	2013-01-08			ENSG00000135747	ENSG00000135747		"""Zinc fingers, C2H2-type"", ""-"""	28167	protein-coding gene	gene with protein product						12477932	Standard	NM_033213		Approved	MGC12466	uc001icd.2	Q9BS34	OTTHUMG00000040868	ENST00000366503.2:c.618C>T	1.37:g.247201303G>A						ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron	p.F206F	NM_033213	NP_149990	Q9BS34	ZN670_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00427)		4	789	-	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	206			C2H2-type 3.			Silent	SNP	ENST00000366503.2	37	c.618C>T	CCDS31087.1																																																																																				0.343	ZNF670-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098183.3	NM_033213		5	40	0	0	0	0	5	40				
ITGB1	3688	broad.mit.edu	37	10	33217097	33217097	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr10:33217097C>T	ENST00000396033.2	-	5	607	c.472G>A	c.(472-474)Gat>Aat	p.D158N	ITGB1_ENST00000484088.1_Intron|ITGB1_ENST00000374956.4_Missense_Mutation_p.D158N|ITGB1_ENST00000302278.3_Missense_Mutation_p.D158N|ITGB1_ENST00000423113.1_Missense_Mutation_p.D158N	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	158	VWFA.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	TTCTCCAAATCGTCTTTCATT	0.393																																						uc001iws.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(472-474)GAT>AAT		integrin beta 1 isoform 1A precursor							147.0	147.0	147.0					10																	33217097		2203	4300	6503	SO:0001583	missense	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33217097C>T	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.472G>A	10.37:g.33217097C>T	ENSP00000379350:p.Asp158Asn					ITGB1_uc001iwp.3_Missense_Mutation_p.D158N|ITGB1_uc001iwq.3_Missense_Mutation_p.D158N|ITGB1_uc001iwr.3_Missense_Mutation_p.D158N|ITGB1_uc001iwt.3_Missense_Mutation_p.D158N|ITGB1_uc001iwu.1_Missense_Mutation_p.D158N	p.D158N	NM_133376	NP_596867	P05556	ITB1_HUMAN			5	608	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	158			Extracellular (Potential).|VWFA.		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	c.472G>A	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874948	0.72180	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956;ENST00000480226	D;D;D;D;D	0.94793	-3.52;-3.52;-3.52;-3.52;-3.52	6.07	6.07	0.98685	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.96015	0.8702	M	0.66560	2.04	0.80722	D	1	P;P;P;D;P	0.64830	0.861;0.885;0.772;0.994;0.861	B;B;B;P;B	0.53450	0.21;0.208;0.345;0.726;0.409	D	0.95488	0.8566	10	0.59425	D	0.04	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	158;158;158;158;158	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	N	158	ENSP00000379350:D158N;ENSP00000388694:D158N;ENSP00000303351:D158N;ENSP00000364094:D158N;ENSP00000417537:D158N	ENSP00000303351:D158N	D	-	1	0	ITGB1	33257103	1.000000	0.71417	0.863000	0.33907	0.264000	0.26372	7.792000	0.85828	2.885000	0.99019	0.655000	0.94253	GAT		0.393	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		18	61	0	0	0	0	18	61				
TSPAN15	23555	broad.mit.edu	37	10	71258083	71258083	+	Silent	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr10:71258083G>A	ENST00000373290.2	+	5	623	c.501G>A	c.(499-501)caG>caA	p.Q167Q	TSPAN15_ENST00000459981.1_3'UTR	NM_012339.3	NP_036471.1	O95858	TSN15_HUMAN	tetraspanin 15	167					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						GCAAGAATCAGTACCACGACT	0.627																																						uc001jpo.1		NA																	0					0						c.(499-501)CAG>CAA		transmembrane 4 superfamily member 15							92.0	64.0	74.0					10																	71258083		2203	4300	6503	SO:0001819	synonymous_variant	23555					integral to plasma membrane|membrane fraction		g.chr10:71258083G>A	AY358934	CCDS7294.1	10q22.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000099282	ENSG00000099282		"""Tetraspanins"""	23298	protein-coding gene	gene with protein product		613140	"""transmembrane 4 superfamily member 15"""	TM4SF15		11739647, 10719184	Standard	NM_012339		Approved	NET-7	uc001jpo.1	O95858	OTTHUMG00000018381	ENST00000373290.2:c.501G>A	10.37:g.71258083G>A							p.Q167Q	NM_012339	NP_036471	O95858	TSN15_HUMAN			5	626	+			167			Extracellular (Potential).		Q6UW79	Silent	SNP	ENST00000373290.2	37	c.501G>A	CCDS7294.1																																																																																				0.627	TSPAN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048444.1	NM_012339		18	27	0	0	0	0	18	27				
SORCS1	114815	broad.mit.edu	37	10	108389025	108389025	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr10:108389025C>T	ENST00000263054.6	-	19	2604	c.2597G>A	c.(2596-2598)cGt>cAt	p.R866H	SORCS1_ENST00000344440.6_Missense_Mutation_p.R866H|SORCS1_ENST00000369698.1_Missense_Mutation_p.R401H	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	866	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.R866H(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CACGGTCACACGGAAAATGCC	0.473																																						uc001kym.2		NA																	1	Substitution - Missense(1)		stomach(1)	breast(1)|central_nervous_system(1)	2						c.(2596-2598)CGT>CAT		SORCS receptor 1 isoform a							160.0	115.0	130.0					10																	108389025		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108389025C>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2597G>A	10.37:g.108389025C>T	ENSP00000263054:p.Arg866His					SORCS1_uc001kyl.2_Missense_Mutation_p.R866H|SORCS1_uc009xxs.2_Missense_Mutation_p.R866H|SORCS1_uc001kyn.1_Missense_Mutation_p.R866H|SORCS1_uc001kyo.2_Missense_Mutation_p.R866H	p.R866H	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	19	2605	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	866			Lumenal (Potential).|PKD.		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.2597G>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575236	0.86542	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.59638	0.25;0.25;0.25	5.82	5.82	0.92795	PKD/Chitinase domain (1);PKD domain (4);	0.082822	0.51477	D	0.000086	T	0.70518	0.3233	L	0.60455	1.87	0.51482	D	0.999925	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.71656	0.974;0.956;0.973;0.974;0.973	T	0.68788	-0.5316	9	.	.	.	-10.1026	13.3158	0.60407	0.0:0.9281:0.0:0.0719	.	866;866;866;866;866	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	H	401;866;866	ENSP00000358712:R401H;ENSP00000263054:R866H;ENSP00000345964:R866H	.	R	-	2	0	SORCS1	108379015	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	1.962000	0.40442	2.760000	0.94817	0.655000	0.94253	CGT		0.473	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		9	24	0	0	0	0	9	24				
SLC22A11	55867	broad.mit.edu	37	11	64337279	64337279	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr11:64337279C>T	ENST00000301891.4	+	9	1912	c.1538C>T	c.(1537-1539)cCg>cTg	p.P513L	SLC22A11_ENST00000377581.3_Intron|SLC22A11_ENST00000377585.3_Missense_Mutation_p.P405L	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	513					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	TTCTTCCTCCCGGAGACCCAG	0.627																																						uc001oai.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1537-1539)CCG>CTG		solute carrier family 22 member 11	Probenecid(DB01032)						118.0	109.0	112.0					11																	64337279		2201	4297	6498	SO:0001583	missense	55867				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	g.chr11:64337279C>T	AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"""Solute carriers"""	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.1538C>T	11.37:g.64337279C>T	ENSP00000301891:p.Pro513Leu					SLC22A11_uc001oaj.2_Intron|SLC22A11_uc009ypq.2_Missense_Mutation_p.P405L	p.P513L	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN			9	1912	+			513			Cytoplasmic (Potential).		A8K426|Q53GR2|Q6ZP72|Q8NBU4	Missense_Mutation	SNP	ENST00000301891.4	37	c.1538C>T	CCDS8074.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919664	0.52653	.	.	ENSG00000168065	ENST00000301891;ENST00000377585;ENST00000416590	T;T;D	0.84146	-1.25;0.12;-1.81	3.55	2.63	0.31362	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	U	0.000001	D	0.92760	0.7698	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	0.968;1.0	B;D	0.97110	0.375;1.0	D	0.92347	0.5886	10	0.87932	D	0	.	9.1756	0.37109	0.0:0.8883:0.0:0.1117	.	405;513	Q9NSA0-2;Q9NSA0	.;S22AB_HUMAN	L	513;405;116	ENSP00000301891:P513L;ENSP00000366809:P405L;ENSP00000413508:P116L	ENSP00000301891:P513L	P	+	2	0	SLC22A11	64093855	0.931000	0.31567	0.091000	0.20842	0.547000	0.35210	3.184000	0.50926	0.843000	0.35070	0.485000	0.47835	CCG		0.627	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484		32	89	0	0	0	0	32	89				
KIAA1377	57562	broad.mit.edu	37	11	101818768	101818768	+	Missense_Mutation	SNP	G	G	A	rs549081062		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr11:101818768G>A	ENST00000263468.8	+	4	671	c.401G>A	c.(400-402)cGa>cAa	p.R134Q		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	134										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TTAGTTTCCCGAAAACCAGTT	0.338													G|||	1	0.000199681	0.0	0.0	5008	,	,		15328	0.0		0.0	False		,,,				2504	0.001					uc001pgm.2		NA																	0				breast(2)|ovary(1)|central_nervous_system(1)	4						c.(400-402)CGA>CAA		hypothetical protein LOC57562							78.0	78.0	78.0					11																	101818768		2203	4299	6502	SO:0001583	missense	57562						protein binding	g.chr11:101818768G>A	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.401G>A	11.37:g.101818768G>A	ENSP00000263468:p.Arg134Gln					KIAA1377_uc001pgn.2_Missense_Mutation_p.R90Q|KIAA1377_uc009yxa.1_5'UTR	p.R134Q	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	4	671	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	134					Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.401G>A	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.729209	0.30684	.	.	ENSG00000110318	ENST00000263468	T	0.05258	3.47	5.4	1.63	0.23807	.	0.769815	0.11927	N	0.516073	T	0.01353	0.0044	N	0.00237	-1.79	0.80722	D	1	B	0.10296	0.003	B	0.01281	0.0	T	0.42599	-0.9442	10	0.06494	T	0.89	-3.2223	6.916	0.24359	0.6506:0.0:0.3494:0.0	.	134	Q9P2H0	K1377_HUMAN	Q	134	ENSP00000263468:R134Q	ENSP00000263468:R134Q	R	+	2	0	KIAA1377	101323978	0.292000	0.24362	0.968000	0.41197	0.663000	0.39108	0.250000	0.18235	0.422000	0.26005	-0.290000	0.09829	CGA		0.338	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		11	15	0	0	0	0	11	15				
ATM	472	broad.mit.edu	37	11	108117798	108117798	+	Missense_Mutation	SNP	C	C	T	rs138398778		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr11:108117798C>T	ENST00000452508.2	+	9	1198	c.1009C>T	c.(1009-1011)Cgt>Tgt	p.R337C	ATM_ENST00000278616.4_Missense_Mutation_p.R337C			Q13315	ATM_HUMAN	ATM serine/threonine kinase	337			R -> C (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.|R -> H (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.R337C(3)|p.R337S(2)|p.F336_A340del(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTCAGGATTTCGTAATATTGC	0.323			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1		NA	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		6	Substitution - Missense(5)|Deletion - In frame(1)	p.R337C(2)|p.R337S(2)|p.R337H(1)	haematopoietic_and_lymphoid_tissue(3)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)	haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(1009-1011)CGT>TGT	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1		C	CYS/ARG	0,4402		0,0,2201	60.0	61.0	61.0		1009	5.7	1.0	11	dbSNP_134	61	1,8595	1.2+/-3.3	0,1,4297	yes	missense	ATM	NM_000051.3	180	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	337/3057	108117798	1,12997	2201	4298	6499	SO:0001583	missense	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108117798C>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1009C>T	11.37:g.108117798C>T	ENSP00000388058:p.Arg337Cys	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.R337C	p.R337C	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	8	1394	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	337		R -> C (in a colorectal adenocarcinoma sample; somatic mutation).|R -> H (in a colorectal adenocarcinoma sample; somatic mutation).			B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.1009C>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568847	0.86439	0.0	1.16E-4	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.02369	4.32;4.62;4.62	5.72	5.72	0.89469	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.15565	0.0375	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.00022	-1.2342	10	0.87932	D	0	.	19.8868	0.96915	0.0:1.0:0.0:0.0	.	337	Q13315	ATM_HUMAN	C	337	ENSP00000435747:R337C;ENSP00000278616:R337C;ENSP00000388058:R337C	ENSP00000278616:R337C	R	+	1	0	ATM	107623008	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.213000	0.58520	2.709000	0.92574	0.655000	0.94253	CGT		0.323	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		17	5	0	0	0	0	17	5				
KDM5A	5927	broad.mit.edu	37	12	475139	475139	+	Silent	SNP	G	G	C			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr12:475139G>C	ENST00000399788.2	-	4	860	c.498C>G	c.(496-498)ctC>ctG	p.L166L	KDM5A_ENST00000382815.4_Silent_p.L166L	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	166	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.L166L(4)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CATATGGGTAGAGAATTCTTT	0.393			T	NUP98	AML																																	uc001qif.1		NA		Dom	yes		12	12p11	5927	T 	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		4	Substitution - coding silent(4)		lung(2)|endometrium(2)	skin(2)|ovary(1)	3						c.(496-498)CTC>CTG		retinoblastoma binding protein 2 isoform 1							177.0	176.0	177.0					12																	475139		1831	4093	5924	SO:0001819	synonymous_variant	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:475139G>C		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.498C>G	12.37:g.475139G>C						KDM5A_uc001qie.1_Silent_p.L166L|KDM5A_uc010sdn.1_Silent_p.L125L|KDM5A_uc010sdo.1_Intron	p.L166L	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN			4	861	-			166			ARID.		A8MV76|Q4LE72|Q86XZ1	Silent	SNP	ENST00000399788.2	37	c.498C>G	CCDS41736.1																																																																																				0.393	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		8	224	0	0	0	0	8	224				
TMCC3	57458	broad.mit.edu	37	12	94965489	94965489	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr12:94965489G>A	ENST00000261226.4	-	4	1287	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C	TMCC3_ENST00000551457.1_Missense_Mutation_p.R355C	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	386						integral component of membrane (GO:0016021)		p.R386G(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TTAGAAATGCGAGTCTGGCAG	0.547																																						uc001tdj.2		NA																	1	Substitution - Missense(1)		NS(1)	ovary(1)|skin(1)	2						c.(1156-1158)CGC>TGC		transmembrane and coiled-coil domain family 3							126.0	119.0	121.0					12																	94965489		2203	4300	6503	SO:0001583	missense	57458					integral to membrane		g.chr12:94965489G>A	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.1156C>T	12.37:g.94965489G>A	ENSP00000261226:p.Arg386Cys					TMCC3_uc001tdi.2_Missense_Mutation_p.R355C	p.R386C	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN			4	1274	-			386			Potential.		Q8IWB2	Missense_Mutation	SNP	ENST00000261226.4	37	c.1156C>T	CCDS31877.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551299	0.86127	.	.	ENSG00000057704	ENST00000261226;ENST00000551457	T;T	0.60171	0.21;0.21	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.79058	0.4382	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.82368	-0.0492	10	0.87932	D	0	-27.5147	18.9246	0.92540	0.0:0.0:1.0:0.0	.	386	Q9ULS5	TMCC3_HUMAN	C	386;355	ENSP00000261226:R386C;ENSP00000449888:R355C	ENSP00000261226:R386C	R	-	1	0	TMCC3	93489620	1.000000	0.71417	0.910000	0.35882	0.719000	0.41307	6.659000	0.74412	2.463000	0.83235	0.561000	0.74099	CGC		0.547	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		30	62	0	0	0	0	30	62				
SLC5A8	160728	broad.mit.edu	37	12	101551086	101551086	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr12:101551086T>C	ENST00000536262.2	-	15	2362	c.1804A>G	c.(1804-1806)Agt>Ggt	p.S602G		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTCTTGCCACTCTGATCTGAG	0.368																																					GBM(60;420 1056 13605 22380 47675)	uc001thz.3		NA																	0					0						c.(1804-1806)AGT>GGT		solute carrier family 5 (iodide transporter),							132.0	114.0	120.0					12																	101551086		2203	4300	6503	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101551086T>C	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1804A>G	12.37:g.101551086T>C	ENSP00000445340:p.Ser602Gly						p.S602G	NM_145913	NP_666018	Q8N695	SC5A8_HUMAN			15	2194	-			602			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000536262.2	37	c.1804A>G	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	T	6.950	0.545193	0.13312	.	.	ENSG00000256870	ENST00000536262	D	0.85702	-2.02	5.15	3.98	0.46160	.	1.881920	0.02287	N	0.069893	D	0.83018	0.5163	L	0.42245	1.32	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.65459	-0.6163	10	0.54805	T	0.06	.	10.199	0.43071	0.0:0.0:0.1675:0.8325	.	602	Q8N695	SC5A8_HUMAN	G	602	ENSP00000445340:S602G	ENSP00000445340:S602G	S	-	1	0	SLC5A8	100075217	0.085000	0.21516	0.043000	0.18650	0.237000	0.25408	2.308000	0.43690	0.893000	0.36288	0.533000	0.62120	AGT		0.368	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		4	37	0	0	0	0	4	37				
CUX2	23316	broad.mit.edu	37	12	111785858	111785858	+	Missense_Mutation	SNP	C	C	T	rs374715486		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr12:111785858C>T	ENST00000261726.6	+	22	4344	c.4190C>T	c.(4189-4191)tCg>tTg	p.S1397L		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1397	Pro-rich.				cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCACTGAACTCGCCCTCGGCC	0.637																																						uc001tsa.1		NA																	0				ovary(3)|skin(2)|breast(1)	6						c.(4189-4191)TCG>TTG		cut-like 2		C	LEU/SER	0,4268		0,0,2134	43.0	53.0	50.0		4190	4.9	0.9	12		50	2,8480		0,2,4239	no	missense	CUX2	NM_015267.3	145	0,2,6373	TT,TC,CC		0.0236,0.0,0.0157	probably-damaging	1397/1487	111785858	2,12748	2134	4241	6375	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111785858C>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.4190C>T	12.37:g.111785858C>T	ENSP00000261726:p.Ser1397Leu						p.S1397L	NM_015267	NP_056082	O14529	CUX2_HUMAN			22	4343	+			1397			Pro-rich.		A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.4190C>T	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288379	0.80803	0.0	2.36E-4	ENSG00000111249	ENST00000261726	T	0.56103	0.48	5.78	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.56702	0.2003	M	0.63428	1.95	0.58432	D	0.999996	D	0.62365	0.991	P	0.47786	0.557	T	0.61347	-0.7081	10	0.54805	T	0.06	-13.3337	13.6267	0.62168	0.0:0.9247:0.0:0.0753	.	1397	O14529	CUX2_HUMAN	L	1397	ENSP00000261726:S1397L	ENSP00000261726:S1397L	S	+	2	0	CUX2	110270241	1.000000	0.71417	0.888000	0.34837	0.887000	0.51463	5.529000	0.67135	1.445000	0.47624	0.650000	0.86243	TCG		0.637	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		30	55	0	0	0	0	30	55				
SUDS3	64426	broad.mit.edu	37	12	118829084	118829084	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr12:118829084G>A	ENST00000543473.1	+	6	826	c.514G>A	c.(514-516)Gga>Aga	p.G172R	SUDS3_ENST00000397564.2_Missense_Mutation_p.G173R	NM_022491.2	NP_071936.2	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3 homolog (S. cerevisiae)	172					apoptotic process (GO:0006915)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGAACTGACTGGAGGTAGGAA	0.463																																						uc001twz.2		NA																	0					0						c.(514-516)GGA>AGA		suppressor of defective silencing 3							86.0	89.0	88.0					12																	118829084		1828	4074	5902	SO:0001583	missense	64426				chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding	g.chr12:118829084G>A	AK023801	CCDS44993.1	12q24.23	2006-02-13	2006-02-13		ENSG00000111707	ENSG00000111707			29545	protein-coding gene	gene with protein product	"""sin3A-associated protein, 45kDa"""	608250	"""suppressor of defective silencing 3 homolog (SDS3, S. cerevisiae)"""			11909966	Standard	NM_022491		Approved	SDS3, FLJ00052, SAP45	uc001twz.3	Q9H7L9	OTTHUMG00000168884	ENST00000543473.1:c.514G>A	12.37:g.118829084G>A	ENSP00000443988:p.Gly172Arg						p.G172R	NM_022491	NP_071936	Q9H7L9	SDS3_HUMAN			6	653	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		172					Q4KMQ5|Q8N6H0|Q9H8D2	Missense_Mutation	SNP	ENST00000543473.1	37	c.514G>A	CCDS44993.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948794	0.92660	.	.	ENSG00000111707	ENST00000543473;ENST00000397564	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.79776	0.4504	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78545	-0.2163	9	0.38643	T	0.18	-12.5189	18.4005	0.90514	0.0:0.0:1.0:0.0	.	172	Q9H7L9	SDS3_HUMAN	R	172;173	.	ENSP00000380695:G173R	G	+	1	0	SUDS3	117313467	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	9.231000	0.95317	2.677000	0.91161	0.655000	0.94253	GGA		0.463	SUDS3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401504.1	NM_022491		16	110	0	0	0	0	16	110				
HIP1R	9026	broad.mit.edu	37	12	123340573	123340573	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr12:123340573A>G	ENST00000253083.4	+	14	1300	c.1175A>G	c.(1174-1176)gAg>gGg	p.E392G		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	392					receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		AATGCACTGGAGGGTGAGCTG	0.682																																						uc001udj.1		NA																	0				ovary(1)	1						c.(1174-1176)GAG>GGG		huntingtin interacting protein-1-related							44.0	44.0	44.0					12																	123340573		2198	4296	6494	SO:0001583	missense	9026				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding	g.chr12:123340573A>G	AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.1175A>G	12.37:g.123340573A>G	ENSP00000253083:p.Glu392Gly					HIP1R_uc001udg.1_Missense_Mutation_p.E380G|HIP1R_uc001udi.1_Missense_Mutation_p.E392G|HIP1R_uc001udk.1_5'UTR	p.E392G	NM_003959	NP_003950	O75146	HIP1R_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)	14	1234	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		392			Potential.		A6NHQ6|Q6NXG8|Q9UED9	Missense_Mutation	SNP	ENST00000253083.4	37	c.1175A>G	CCDS31922.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.038230	0.75617	.	.	ENSG00000130787	ENST00000253083	T	0.17370	2.28	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.45115	0.1326	M	0.82323	2.585	0.53005	D	0.999966	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.992;0.992;0.998	T	0.51880	-0.8649	10	0.72032	D	0.01	-38.0351	14.0993	0.65044	1.0:0.0:0.0:0.0	.	392;392;380	O75146;Q6NXG8;B3KQW8	HIP1R_HUMAN;.;.	G	392	ENSP00000253083:E392G	ENSP00000253083:E392G	E	+	2	0	HIP1R	121906526	1.000000	0.71417	0.998000	0.56505	0.450000	0.32258	9.211000	0.95120	1.734000	0.51633	0.459000	0.35465	GAG		0.682	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	NM_003959		6	6	0	0	0	0	6	6				
FRY	10129	broad.mit.edu	37	13	32805362	32805362	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr13:32805362C>A	ENST00000380250.3	+	41	5948	c.5452C>A	c.(5452-5454)Caa>Aaa	p.Q1818K		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1818						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACCTAAAAATCAAAATTCAAA	0.333																																						uc001utx.2		NA																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(5452-5454)CAA>AAA		furry homolog							159.0	142.0	147.0					13																	32805362		1869	4099	5968	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32805362C>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.5452C>A	13.37:g.32805362C>A	ENSP00000369600:p.Gln1818Lys					FRY_uc010tdw.1_RNA	p.Q1818K	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	41	5948	+		Lung SC(185;0.0271)	1818					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.5452C>A	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517287	0.44763	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.21191	2.02	5.76	5.76	0.90799	.	0.215022	0.42053	D	0.000778	T	0.12178	0.0296	N	0.08118	0	0.80722	D	1	B	0.18013	0.025	B	0.20384	0.029	T	0.11299	-1.0593	10	0.05959	T	0.93	.	19.9607	0.97248	0.0:1.0:0.0:0.0	.	1818	Q5TBA9	FRY_HUMAN	K	1818;655	ENSP00000369600:Q1818K	ENSP00000369600:Q1818K	Q	+	1	0	FRY	31703362	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.484000	0.81180	2.713000	0.92767	0.585000	0.79938	CAA		0.333	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		17	42	1	0	1.57e-10	2.02e-10	17	42				
SMAD9	4093	broad.mit.edu	37	13	37439827	37439827	+	Nonsense_Mutation	SNP	G	G	A	rs553369182		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr13:37439827G>A	ENST00000399275.2	-	4	989	c.850C>T	c.(850-852)Cga>Tga	p.R284*	SMAD9_ENST00000350148.5_Nonsense_Mutation_p.R247*|SMAD9_ENST00000379826.4_Nonsense_Mutation_p.R284*			O15198	SMAD9_HUMAN	SMAD family member 9	284	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		TCCCCAACTCGGTTGTTCAGT	0.498																																						uc001uvw.2		NA																	0					0						c.(850-852)CGA>TGA		SMAD family member 9 isoform a							85.0	83.0	84.0					13																	37439827		2203	4300	6503	SO:0001587	stop_gained	4093				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr13:37439827G>A		CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"""SMADs"""	6774	protein-coding gene	gene with protein product		603295	"""MAD, mothers against decapentaplegic homolog 9 (Drosophila)"", ""SMAD, mothers against DPP homolog 9 (Drosophila)"""	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.850C>T	13.37:g.37439827G>A	ENSP00000382216:p.Arg284*					SMAD9_uc001uvx.2_Nonsense_Mutation_p.R247*|SMAD9_uc010tep.1_Nonsense_Mutation_p.R77*	p.R284*	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)	5	1193	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	284			MH2.		A2A2Y6|O14989|Q5TBA1	Nonsense_Mutation	SNP	ENST00000399275.2	37	c.850C>T	CCDS45032.1	.	.	.	.	.	.	.	.	.	.	G	40	8.323577	0.98759	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6925	0.69096	0.0:0.0:0.8547:0.1453	.	.	.	.	X	284;247;284	.	ENSP00000239885:R247X	R	-	1	2	SMAD9	36337827	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	3.003000	0.49505	2.610000	0.88304	0.655000	0.94253	CGA		0.498	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	NM_005905		11	32	0	0	0	0	11	32				
TNFSF11	8600	broad.mit.edu	37	13	43180950	43180950	+	Missense_Mutation	SNP	C	C	T	rs150392469		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr13:43180950C>T	ENST00000239849.6	+	5	1001	c.850C>T	c.(850-852)Cgg>Tgg	p.R284W	TNFSF11_ENST00000358545.2_Missense_Mutation_p.R211W|TNFSF11_ENST00000398795.2_Missense_Mutation_p.R211W|TNFSF11_ENST00000405262.2_Missense_Mutation_p.R211W|TNFSF11_ENST00000544862.1_Missense_Mutation_p.R211W			O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	284					activation of JUN kinase activity (GO:0007257)|bone resorption (GO:0045453)|calcium ion homeostasis (GO:0055074)|cytokine-mediated signaling pathway (GO:0019221)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|monocyte chemotaxis (GO:0002548)|organ morphogenesis (GO:0009887)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of bone resorption (GO:0045780)|positive regulation of corticotropin-releasing hormone secretion (GO:0051466)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast development (GO:2001206)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	cytokine activity (GO:0005125)|tumor necrosis factor receptor binding (GO:0005164)|tumor necrosis factor receptor superfamily binding (GO:0032813)			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	Denosumab(DB06643)|Lenalidomide(DB00480)	TTTTAAGTTACGGTCTGGAGA	0.423																																						uc001uyu.2		NA																	0					0						c.(850-852)CGG>TGG		tumor necrosis factor ligand superfamily, member		C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	91.0	92.0	92.0		850,631	4.8	1.0	13	dbSNP_134	92	0,8600		0,0,4300	no	missense,missense	TNFSF11	NM_003701.3,NM_033012.3	101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	284/318,211/245	43180950	1,13005	2203	4300	6503	SO:0001583	missense	8600				immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding	g.chr13:43180950C>T	AF013171	CCDS9384.1, CCDS9385.1	13q14	2008-02-05			ENSG00000120659	ENSG00000120659		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11926	protein-coding gene	gene with protein product		602642				9312132, 9367155	Standard	NM_003701		Approved	TRANCE, RANKL, OPGL, ODF, CD254	uc001uyu.2	O14788	OTTHUMG00000016807	ENST00000239849.6:c.850C>T	13.37:g.43180950C>T	ENSP00000239849:p.Arg284Trp					TNFSF11_uc001uyt.2_Missense_Mutation_p.R211W	p.R284W	NM_003701	NP_003692	O14788	TNF11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	5	999	+		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	284			Extracellular (Potential).		O14723|Q96Q17|Q9P2Q3	Missense_Mutation	SNP	ENST00000239849.6	37	c.850C>T	CCDS9384.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968261	0.34754	2.27E-4	0.0	ENSG00000120659	ENST00000358545;ENST00000405262;ENST00000239849;ENST00000398795;ENST00000544862	T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17	5.74	4.79	0.61399	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.246220	0.40144	N	0.001175	T	0.74989	0.3789	M	0.61703	1.905	0.35588	D	0.806872	D	0.89917	1.0	D	0.71870	0.975	T	0.81215	-0.1034	10	0.87932	D	0	-22.1041	13.882	0.63688	0.2228:0.7772:0.0:0.0	.	284	O14788	TNF11_HUMAN	W	211;211;284;211;211	ENSP00000351347:R211W;ENSP00000384042:R211W;ENSP00000239849:R284W;ENSP00000381775:R211W;ENSP00000444913:R211W	ENSP00000239849:R284W	R	+	1	2	TNFSF11	42078950	1.000000	0.71417	0.966000	0.40874	0.184000	0.23303	2.941000	0.49011	2.873000	0.98535	0.563000	0.77884	CGG		0.423	TNFSF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044702.2			19	82	0	0	0	0	19	82				
MYO16	23026	broad.mit.edu	37	13	109661380	109661380	+	Silent	SNP	T	T	C			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr13:109661380T>C	ENST00000357550.2	+	21	2553	c.2512T>C	c.(2512-2514)Ttg>Ctg	p.L838L	MYO16_ENST00000457511.2_Silent_p.L350L|MYO16_ENST00000356711.2_Silent_p.L838L|MYO16_ENST00000251041.5_Silent_p.L838L	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GAATGGAGTTTTGGACTTTTT	0.358																																						uc001vqt.1		NA																	0				ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(2512-2514)TTG>CTG		myosin heavy chain Myr 8							75.0	80.0	78.0					13																	109661380		2203	4300	6503	SO:0001819	synonymous_variant	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109661380T>C		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.2512T>C	13.37:g.109661380T>C						MYO16_uc010agk.1_Silent_p.L860L|MYO16_uc001vqu.1_Silent_p.L638L|MYO16_uc010tjh.1_Silent_p.L350L	p.L838L	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		22	2638	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		838						Silent	SNP	ENST00000357550.2	37	c.2512T>C	CCDS32008.1																																																																																				0.358	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		21	54	0	0	0	0	21	54				
CDH24	64403	broad.mit.edu	37	14	23517613	23517613	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr14:23517613C>T	ENST00000267383.5	-	12	2128	c.2036G>A	c.(2035-2037)cGa>cAa	p.R679Q	CDH24_ENST00000554034.1_Missense_Mutation_p.R641Q|CDH24_ENST00000487137.2_Missense_Mutation_p.R641Q|CDH24_ENST00000397359.3_Missense_Mutation_p.R679Q|CDH24_ENST00000485922.1_5'UTR			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	679					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)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GATGTTCTCTCGGACGTCCTC	0.682																																						uc001wil.2		NA																	0				central_nervous_system(1)	1						c.(2035-2037)CGA>CAA		cadherin-like 24 isoform 1							79.0	83.0	82.0					14																	23517613		2203	4299	6502	SO:0001583	missense	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23517613C>T	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.2036G>A	14.37:g.23517613C>T	ENSP00000267383:p.Arg679Gln					CDH24_uc001wik.3_RNA|CDH24_uc010akf.2_Missense_Mutation_p.R641Q	p.R679Q	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	13	2296	-	all_cancers(95;3.3e-05)		679			Cytoplasmic (Potential).		D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	ENST00000267383.5	37	c.2036G>A	CCDS9585.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.728739	0.69074	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000422751;ENST00000554034;ENST00000267383	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	3.84	3.84	0.44239	Cadherin, cytoplasmic domain (1);	0.000000	0.64402	D	0.000004	D	0.93109	0.7806	H	0.94886	3.595	0.44547	D	0.997509	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.95033	0.8171	10	0.87932	D	0	.	14.7132	0.69249	0.0:1.0:0.0:0.0	.	641;679	Q86UP0-2;Q86UP0	.;CAD24_HUMAN	Q	679;641;174;641;679	ENSP00000380517:R679Q;ENSP00000434821:R641Q;ENSP00000452493:R641Q;ENSP00000267383:R679Q	ENSP00000267383:R679Q	R	-	2	0	CDH24	22587453	0.966000	0.33281	0.539000	0.28077	0.796000	0.44982	2.394000	0.44450	1.990000	0.58119	0.591000	0.81541	CGA		0.682	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		8	201	0	0	0	0	8	201				
SERPINA1	5265	broad.mit.edu	37	14	94849078	94849078	+	Missense_Mutation	SNP	G	G	A	rs142942004		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr14:94849078G>A	ENST00000448921.1	-	4	1069	c.497C>T	c.(496-498)gCc>gTc	p.A166V	SERPINA1_ENST00000440909.1_Missense_Mutation_p.A166V|SERPINA1_ENST00000355814.4_Missense_Mutation_p.A166V|SERPINA1_ENST00000393087.4_Missense_Mutation_p.A166V|SERPINA1_ENST00000449399.3_Missense_Mutation_p.A166V|SERPINA1_ENST00000402629.1_Missense_Mutation_p.A166V|SERPINA1_ENST00000404814.4_Missense_Mutation_p.A166V|SERPINA1_ENST00000393088.4_Missense_Mutation_p.A166V|SERPINA1_ENST00000555289.1_5'Flank|SERPINA1_ENST00000437397.1_Missense_Mutation_p.A166V	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	166					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.A166V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GACAGTGAAGGCTTCTGAGTG	0.498																																						uc001ycx.3		NA																	1	Substitution - Missense(1)		skin(1)	skin(1)	1						c.(496-498)GCC>GTC		serine proteinase inhibitor, clade A, member 1	Alpha-1-proteinase inhibitor(DB00058)						119.0	120.0	120.0					14																	94849078		2203	4300	6503	SO:0001583	missense	5265	Alpha-1-Antitrypsin_Deficiency			acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	g.chr14:94849078G>A	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.497C>T	14.37:g.94849078G>A	ENSP00000416066:p.Ala166Val					SERPINA1_uc001ycw.3_RNA|SERPINA1_uc010auw.2_Missense_Mutation_p.A166V|SERPINA1_uc010aux.2_Missense_Mutation_p.A166V|SERPINA1_uc001ycy.3_Missense_Mutation_p.A166V|SERPINA1_uc010auy.2_Missense_Mutation_p.A166V|SERPINA1_uc001ycz.3_Missense_Mutation_p.A166V|SERPINA1_uc010auz.2_Missense_Mutation_p.A166V|SERPINA1_uc010ava.2_Missense_Mutation_p.A166V|SERPINA1_uc001ydb.3_Missense_Mutation_p.A166V|SERPINA1_uc010avb.2_Missense_Mutation_p.A166V|SERPINA1_uc001ydc.3_Missense_Mutation_p.A166V|SERPINA1_uc001yda.1_Missense_Mutation_p.A166V	p.A166V	NM_000295	NP_000286	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	2	758	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	166					A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Missense_Mutation	SNP	ENST00000448921.1	37	c.497C>T	CCDS9925.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.430222	0.25726	.	.	ENSG00000197249	ENST00000440909;ENST00000448921;ENST00000437397;ENST00000355814;ENST00000393087;ENST00000393088;ENST00000404814;ENST00000449399;ENST00000402629;ENST00000554720	D;D;D;D;D;D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62	5.94	3.11	0.35812	Serpin domain (3);	0.358324	0.25951	N	0.027250	T	0.73458	0.3589	L	0.47078	1.49	0.29194	N	0.875682	B;B	0.27853	0.088;0.191	B;B	0.25506	0.011;0.061	T	0.62473	-0.6847	10	0.25106	T	0.35	.	7.5155	0.27598	0.2009:0.121:0.6781:0.0	.	166;166	P01009-2;P01009	.;A1AT_HUMAN	V	166;166;166;166;166;166;166;166;166;80	ENSP00000390299:A166V;ENSP00000416066:A166V;ENSP00000408474:A166V;ENSP00000348068:A166V;ENSP00000376802:A166V;ENSP00000376803:A166V;ENSP00000385960:A166V;ENSP00000416354:A166V;ENSP00000386094:A166V;ENSP00000450561:A80V	ENSP00000348068:A166V	A	-	2	0	SERPINA1	93918831	0.000000	0.05858	0.986000	0.45419	0.206000	0.24218	-0.539000	0.06113	0.840000	0.34995	0.561000	0.74099	GCC		0.498	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235		80	99	0	0	0	0	80	99				
DLL4	54567	broad.mit.edu	37	15	41228839	41228839	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr15:41228839G>A	ENST00000249749.5	+	9	1930	c.1654G>A	c.(1654-1656)Gtg>Atg	p.V552M		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	552					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac atrium morphogenesis (GO:0003209)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|dorsal aorta morphogenesis (GO:0035912)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of neural retina development (GO:0061074)|regulation of neurogenesis (GO:0050767)|signal transduction (GO:0007165)|ventral spinal cord interneuron fate commitment (GO:0060579)|ventricular trabecula myocardium morphogenesis (GO:0003222)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGCAGTGGCTGTGCGGCAGCT	0.667																																						uc001zng.1		NA																	0				breast(2)	2						c.(1654-1656)GTG>ATG		delta-like 4 protein precursor							13.0	18.0	17.0					15																	41228839		2161	4261	6422	SO:0001583	missense	54567				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding	g.chr15:41228839G>A	AF253468	CCDS45232.1	15q14	2008-07-03	2001-12-03			ENSG00000128917			2910	protein-coding gene	gene with protein product		605185	"""delta-like 4 homolog (Drosophila)"""			10837024	Standard	NM_019074		Approved		uc001zng.2	Q9NR61		ENST00000249749.5:c.1654G>A	15.37:g.41228839G>A	ENSP00000249749:p.Val552Met						p.V552M	NM_019074	NP_061947	Q9NR61	DLL4_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	9	1974	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	552			Cytoplasmic (Potential).		Q3KP23|Q9NQT9	Missense_Mutation	SNP	ENST00000249749.5	37	c.1654G>A	CCDS45232.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554167	0.45487	.	.	ENSG00000128917	ENST00000249749	D	0.89270	-2.49	6.06	6.06	0.98353	.	0.238208	0.43579	D	0.000551	T	0.81302	0.4794	L	0.29908	0.895	0.34124	D	0.664444	P	0.45902	0.868	B	0.42214	0.38	T	0.83261	-0.0048	10	0.33940	T	0.23	.	6.4958	0.22142	0.1059:0.0:0.7166:0.1775	.	552	Q9NR61	DLL4_HUMAN	M	552	ENSP00000249749:V552M	ENSP00000249749:V552M	V	+	1	0	DLL4	39016131	0.976000	0.34144	1.000000	0.80357	0.998000	0.95712	2.060000	0.41394	2.879000	0.98667	0.650000	0.86243	GTG		0.667	DLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418859.1			12	23	0	0	0	0	12	23				
HERC1	8925	broad.mit.edu	37	15	63958585	63958585	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr15:63958585G>A	ENST00000443617.2	-	41	8380	c.8293C>T	c.(8293-8295)Cgg>Tgg	p.R2765W		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2765					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCAATCTGCCGAAGAGAGAAC	0.428																																						uc002amp.2		NA																	0				ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(8293-8295)CGG>TGG		hect domain and RCC1-like domain 1							109.0	102.0	104.0					15																	63958585		1837	4104	5941	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63958585G>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.8293C>T	15.37:g.63958585G>A	ENSP00000390158:p.Arg2765Trp						p.R2765W	NM_003922	NP_003913	Q15751	HERC1_HUMAN			41	8441	-			2765					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.8293C>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951230	0.73787	.	.	ENSG00000103657	ENST00000443617	T	0.22945	1.93	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000004	T	0.43612	0.1255	L	0.48642	1.525	0.58432	D	0.999998	D	0.89917	1.0	D	0.77557	0.99	T	0.26258	-1.0108	10	0.87932	D	0	.	13.5291	0.61611	0.0:0.0:0.741:0.259	.	2765	Q15751	HERC1_HUMAN	W	2765	ENSP00000390158:R2765W	ENSP00000390158:R2765W	R	-	1	2	HERC1	61745638	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.014000	0.57145	2.680000	0.91292	0.655000	0.94253	CGG		0.428	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		23	75	0	0	0	0	23	75				
AXIN1	8312	broad.mit.edu	37	16	396963	396963	+	Silent	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr16:396963G>A	ENST00000262320.3	-	2	434	c.63C>T	c.(61-63)ccC>ccT	p.P21P	AXIN1_ENST00000481769.1_Intron|AXIN1_ENST00000354866.3_Silent_p.P21P	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	21					activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CTGGGGGTCGGGGAGCATCTT	0.572																																						uc002cgp.1		NA																	0				breast(1)|liver(1)	2						c.(61-63)CCC>CCT		axin 1 isoform a							54.0	60.0	58.0					16																	396963		2203	4300	6503	SO:0001819	synonymous_variant	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:396963G>A	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.63C>T	16.37:g.396963G>A						AXIN1_uc002cgq.1_Silent_p.P21P	p.P21P	NM_003502	NP_003493	O15169	AXIN1_HUMAN			2	240	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	21			Tankyrase-binding motif.		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Silent	SNP	ENST00000262320.3	37	c.63C>T	CCDS10405.1																																																																																				0.572	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			25	55	0	0	0	0	25	55				
TBL3	10607	broad.mit.edu	37	16	2024602	2024602	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr16:2024602A>C	ENST00000568546.1	+	5	429	c.301A>C	c.(301-303)Acc>Ccc	p.T101P		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	101					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GGGCAGCGTTACCCGCCTGTG	0.662																																					Melanoma(118;616 1651 35077 38081 48633)	uc002cnu.1		NA																	0					0						c.(301-303)ACC>CCC		transducin beta-like 3							29.0	33.0	32.0					16																	2024602		2198	4299	6497	SO:0001583	missense	10607				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity	g.chr16:2024602A>C	U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"""WD repeat domain containing"""	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.301A>C	16.37:g.2024602A>C	ENSP00000454836:p.Thr101Pro					TBL3_uc002cnv.1_5'UTR|TBL3_uc010bsb.1_5'UTR|TBL3_uc010bsc.1_5'UTR|TBL3_uc010uvt.1_5'Flank|TBL3_uc002cnw.1_5'Flank	p.T101P	NM_006453	NP_006444	Q12788	TBL3_HUMAN			5	403	+			101			WD 1.		Q59GD6|Q8IVB7|Q96A78	Missense_Mutation	SNP	ENST00000568546.1	37	c.301A>C	CCDS10453.1	.	.	.	.	.	.	.	.	.	.	A	9.738	1.164182	0.21538	.	.	ENSG00000183751	ENST00000332704	.	.	.	4.97	3.84	0.44239	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.457204	0.26293	N	0.025207	T	0.37100	0.0991	M	0.70275	2.135	0.09310	N	1	P	0.43662	0.814	P	0.44561	0.453	T	0.39683	-0.9602	9	0.54805	T	0.06	-11.3078	3.4886	0.07629	0.6438:0.0:0.1898:0.1663	.	101	Q12788	TBL3_HUMAN	P	101	.	ENSP00000331815:T101P	T	+	1	0	TBL3	1964603	0.053000	0.20554	0.051000	0.19133	0.687000	0.40016	1.215000	0.32431	0.697000	0.31718	0.459000	0.35465	ACC		0.662	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250615.3	NM_006453		7	36	0	0	0	0	7	36				
MMP25	64386	broad.mit.edu	37	16	3100422	3100422	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr16:3100422A>G	ENST00000336577.4	+	4	773	c.536A>G	c.(535-537)cAc>cGc	p.H179R	RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000573130.1_RNA|MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	190					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	CGCGCCTTCCACCAGGACAGC	0.632																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)	uc002cth.2		NA																	0					0						c.(535-537)CAC>CGC		matrix metalloproteinase 25 preproprotein							49.0	46.0	47.0					16																	3100422		2197	4300	6497	SO:0001583	missense	64386				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr16:3100422A>G	AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"""matrix metalloproteinase 25"", ""matrix metallopeptidase-like 1"""	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.536A>G	16.37:g.3100422A>G	ENSP00000337816:p.His179Arg					MMP25_uc002cti.1_Missense_Mutation_p.H115R	p.H179R	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN			4	773	+			179					Q96F04|Q96TE2	Missense_Mutation	SNP	ENST00000336577.4	37	c.536A>G	CCDS10492.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.260316	0.59431	.	.	ENSG00000008516	ENST00000336577;ENST00000325800	T	0.27104	1.69	4.96	4.96	0.65561	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.51477	D	0.000089	T	0.61135	0.2323	M	0.94142	3.5	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.72465	-0.4285	10	0.87932	D	0	.	12.5504	0.56223	1.0:0.0:0.0:0.0	.	103;179	O43923;Q9NPA2	.;MMP25_HUMAN	R	179;106	ENSP00000337816:H179R	ENSP00000324953:H106R	H	+	2	0	MMP25	3040423	1.000000	0.71417	1.000000	0.80357	0.156000	0.22039	9.166000	0.94766	1.861000	0.53984	0.533000	0.62120	CAC		0.632	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1	NM_022468		23	60	0	0	0	0	23	60				
PDILT	204474	broad.mit.edu	37	16	20371929	20371929	+	Silent	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr16:20371929C>T	ENST00000302451.4	-	11	1715	c.1467G>A	c.(1465-1467)ctG>ctA	p.L489L		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	489					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TGTGGCTTTCCAGGAAGTCAG	0.468																																						uc002dhc.1		NA																	0				large_intestine(1)	1						c.(1465-1467)CTG>CTA		protein disulfide isomerase-like, testis							220.0	200.0	207.0					16																	20371929		2203	4300	6503	SO:0001819	synonymous_variant	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20371929C>T		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1467G>A	16.37:g.20371929C>T							p.L489L	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			11	1690	-			489					Q8IVQ5	Silent	SNP	ENST00000302451.4	37	c.1467G>A	CCDS10584.1																																																																																				0.468	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		65	150	0	0	0	0	65	150				
RPGRIP1L	23322	broad.mit.edu	37	16	53720433	53720433	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr16:53720433C>T	ENST00000379925.3	-	6	738	c.688G>A	c.(688-690)Gag>Aag	p.E230K	RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.E230K|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.E230K|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.E230K	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	230					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TTCAGGATCTCAGCCAAGTGC	0.378																																						uc002ehp.2		NA																	0				ovary(1)	1						c.(688-690)GAG>AAG		RPGRIP1-like isoform a							123.0	119.0	120.0					16																	53720433		2198	4300	6498	SO:0001583	missense	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53720433C>T		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.688G>A	16.37:g.53720433C>T	ENSP00000369257:p.Glu230Lys					RPGRIP1L_uc002eho.3_Missense_Mutation_p.E230K|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.E230K|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.E230K|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.E230K|RPGRIP1L_uc002ehq.1_Missense_Mutation_p.E230K	p.E230K	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN			6	752	-		all_cancers(37;0.0973)	230			Potential.		A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	c.688G>A	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465151	0.84425	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;T	0.76186	-0.08;-1.0	5.73	5.73	0.89815	.	0.264174	0.40385	N	0.001106	T	0.76821	0.4041	M	0.64404	1.975	0.80722	D	1	P;B;P;P	0.42078	0.611;0.033;0.77;0.51	B;B;B;B	0.43575	0.147;0.032;0.424;0.217	T	0.74688	-0.3581	10	0.34782	T	0.22	-10.131	19.8649	0.96801	0.0:1.0:0.0:0.0	.	230;230;230;230	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	K	230	ENSP00000369257:E230K;ENSP00000262135:E230K	ENSP00000262135:E230K	E	-	1	0	RPGRIP1L	52277934	0.999000	0.42202	0.999000	0.59377	0.997000	0.91878	4.459000	0.60102	2.854000	0.98071	0.655000	0.94253	GAG		0.378	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		4	70	0	0	0	0	4	70				
CMTM4	146223	broad.mit.edu	37	16	66651242	66651242	+	Missense_Mutation	SNP	C	C	A	rs374620860		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr16:66651242C>A	ENST00000330687.4	-	5	824	c.643G>T	c.(643-645)Gta>Tta	p.V215L		NM_178818.2|NM_181521.2	NP_848933.1|NP_852662.1	Q8IZR5	CKLF4_HUMAN	CKLF-like MARVEL transmembrane domain containing 4	215					chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214)		CTTACTGTTACGTTTGTGGAG	0.363																																						uc002epz.2		NA																	0				pancreas(1)	1						c.(643-645)GTA>TTA		chemokine-like factor superfamily 4 isoform 1							97.0	89.0	92.0					16																	66651242		2201	4300	6501	SO:0001583	missense	146223				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr16:66651242C>A	AF479814	CCDS10817.1, CCDS42170.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000183723	ENSG00000183723			19175	protein-coding gene	gene with protein product		607887	"""chemokine-like factor super family 4"", ""chemokine-like factor superfamily 4"""	CKLFSF4		12782130	Standard	NM_178818		Approved		uc002epz.3	Q8IZR5	OTTHUMG00000137500	ENST00000330687.4:c.643G>T	16.37:g.66651242C>A	ENSP00000333833:p.Val215Leu					CMTM4_uc002eqa.2_3'UTR	p.V215L	NM_178818	NP_848933	Q8IZR5	CKLF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214)	5	825	-		Ovarian(137;0.0563)	215					Q52M40|Q8IZR4|Q8IZV1	Missense_Mutation	SNP	ENST00000330687.4	37	c.643G>T	CCDS10817.1	.	.	.	.	.	.	.	.	.	.	C	8.409	0.843808	0.16963	.	.	ENSG00000183723	ENST00000330687	T	0.27402	1.67	3.62	-4.35	0.03656	.	1.892810	0.02528	N	0.093310	T	0.12944	0.0314	N	0.03608	-0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.17228	-1.0376	10	0.23302	T	0.38	.	6.9682	0.24635	0.0:0.5205:0.1755:0.304	.	215	Q8IZR5	CKLF4_HUMAN	L	215	ENSP00000333833:V215L	ENSP00000333833:V215L	V	-	1	0	CMTM4	65208743	0.000000	0.05858	0.001000	0.08648	0.052000	0.14988	-1.288000	0.02783	-1.001000	0.03434	-0.238000	0.12139	GTA		0.363	CMTM4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268807.1			12	21	1	0	9.31e-06	1.13e-05	12	21				
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron	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	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TCTGTGCGCCGGTCTCTCCCA	0.557		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		463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	p.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(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	GRCh37	CM056413|CM920678	TP53	M	rs28934574	c.(844-846)CGG>TGG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83.0	71.0	75.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	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.chr17:7577094G>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.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp	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_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W	p.R282W	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1038	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).	|Interaction with E4F1.|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.844C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		21	19	0	0	0	0	21	19				
ALOX15B	247	broad.mit.edu	37	17	7951079	7951079	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr17:7951079G>A	ENST00000380183.4	+	13	1836	c.1697G>A	c.(1696-1698)tGg>tAg	p.W566*	ALOX15B_ENST00000572022.1_Nonsense_Mutation_p.W554*|ALOX15B_ENST00000573359.1_Nonsense_Mutation_p.W492*|ALOX15B_ENST00000380173.2_Nonsense_Mutation_p.W537*	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	566	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						TCCTGTGCTTGGATGCCCAAC	0.632																																						uc002gju.2		NA																	0				ovary(1)	1						c.(1696-1698)TGG>TAG		arachidonate 15-lipoxygenase, second type							74.0	69.0	71.0					17																	7951079		2203	4300	6503	SO:0001587	stop_gained	247				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7951079G>A	U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"""Arachidonate lipoxygenases"""	434	protein-coding gene	gene with protein product		603697	"""arachidonate 15-lipoxygenase, second type"""			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.1697G>A	17.37:g.7951079G>A	ENSP00000369530:p.Trp566*					ALOX15B_uc002gjv.2_Nonsense_Mutation_p.W537*|ALOX15B_uc002gjw.2_Nonsense_Mutation_p.W492*|ALOX15B_uc010vun.1_Nonsense_Mutation_p.W554*|ALOX15B_uc010cnp.2_Nonsense_Mutation_p.W372*	p.W566*	NM_001141	NP_001132	O15296	LX15B_HUMAN			13	1813	+			566			Lipoxygenase.		D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Nonsense_Mutation	SNP	ENST00000380183.4	37	c.1697G>A	CCDS11128.1	.	.	.	.	.	.	.	.	.	.	G	38	7.225842	0.98146	.	.	ENSG00000179593	ENST00000380173;ENST00000339694;ENST00000380183	.	.	.	4.09	4.09	0.47781	.	0.179521	0.52532	D	0.000062	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.0302	15.5893	0.76512	0.0:0.0:1.0:0.0	.	.	.	.	X	537;492;566	.	ENSP00000344337:W492X	W	+	2	0	ALOX15B	7891804	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	4.020000	0.57189	2.279000	0.76181	0.561000	0.74099	TGG		0.632	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2			17	56	0	0	0	0	17	56				
TOP3A	7156	broad.mit.edu	37	17	18198059	18198059	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr17:18198059G>A	ENST00000321105.5	-	10	1245	c.1031C>T	c.(1030-1032)gCt>gTt	p.A344V	TOP3A_ENST00000542570.1_Missense_Mutation_p.A249V|TOP3A_ENST00000540524.1_5'UTR	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	344					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GGTTTCTTTAGCATTTATTCT	0.423																																						uc002gsx.1		NA																	0				skin(3)	3						c.(1030-1032)GCT>GTT		topoisomerase (DNA) III alpha							125.0	114.0	118.0					17																	18198059		2203	4300	6503	SO:0001583	missense	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18198059G>A	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.1031C>T	17.37:g.18198059G>A	ENSP00000321636:p.Ala344Val					TOP3A_uc010vxr.1_5'UTR|TOP3A_uc002gsw.1_5'UTR|TOP3A_uc010vxs.1_Missense_Mutation_p.A242V	p.A344V	NM_004618	NP_004609	Q13472	TOP3A_HUMAN			10	1260	-			344					A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	c.1031C>T	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.501086	0.64298	.	.	ENSG00000177302	ENST00000321105;ENST00000542570	T;T	0.29655	1.56;1.56	5.25	5.25	0.73442	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central region, subdomain 3 (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.66147	0.2760	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.74315	-0.3705	10	0.72032	D	0.01	-17.6331	19.1963	0.93690	0.0:0.0:1.0:0.0	.	249;344	B4DK80;Q13472	.;TOP3A_HUMAN	V	344;249	ENSP00000321636:A344V;ENSP00000442336:A249V	ENSP00000321636:A344V	A	-	2	0	TOP3A	18138784	1.000000	0.71417	0.987000	0.45799	0.998000	0.95712	9.704000	0.98716	2.610000	0.88304	0.591000	0.81541	GCT		0.423	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			13	48	0	0	0	0	13	48				
KRT36	8689	broad.mit.edu	37	17	39643859	39643859	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr17:39643859C>T	ENST00000328119.6	-	4	829	c.830G>A	c.(829-831)cGc>cAc	p.R277H	KRT36_ENST00000393986.2_Missense_Mutation_p.R227H	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	277	Coil 2.|Rod.		R -> C (in dbSNP:rs9904102).		regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CACATCTCTGCGGTTATTCTC	0.592																																						uc002hwt.2		NA																	0					0						c.(829-831)CGC>CAC		keratin 36							109.0	101.0	104.0					17																	39643859		2203	4300	6503	SO:0001583	missense	8689					intermediate filament	protein binding|structural constituent of epidermis	g.chr17:39643859C>T	Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6454	protein-coding gene	gene with protein product		604540	"""keratin, hair, acidic, 6"""	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.830G>A	17.37:g.39643859C>T	ENSP00000329165:p.Arg277His						p.R277H	NM_003771	NP_003762	O76013	KRT36_HUMAN			4	830	-		Breast(137;0.000286)	277			Rod.|Coil 2.		Q86XG4	Missense_Mutation	SNP	ENST00000328119.6	37	c.830G>A	CCDS11395.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687422	0.48097	.	.	ENSG00000126337	ENST00000393986;ENST00000328119	D;D	0.90004	-2.6;-2.6	5.83	1.65	0.23941	Filament (1);	0.258676	0.27654	N	0.018417	D	0.91287	0.7253	M	0.83852	2.665	0.34565	D	0.712822	B	0.25850	0.136	B	0.44085	0.44	D	0.90141	0.4213	10	0.59425	D	0.04	.	7.8992	0.29725	0.0:0.6917:0.1163:0.1919	.	277	O76013	KRT36_HUMAN	H	227;277	ENSP00000377555:R227H;ENSP00000329165:R277H	ENSP00000329165:R277H	R	-	2	0	KRT36	36897385	0.334000	0.24739	0.572000	0.28498	0.526000	0.34562	0.970000	0.29383	0.109000	0.17891	-0.136000	0.14681	CGC		0.592	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1	NM_003771		31	85	0	0	0	0	31	85				
SLC38A10	124565	broad.mit.edu	37	17	79220126	79220126	+	Missense_Mutation	SNP	C	C	T	rs372430209		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr17:79220126C>T	ENST00000374759.3	-	16	2973	c.2590G>A	c.(2590-2592)Gcc>Acc	p.A864T		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	864					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCTTCCCTGGCGGGGTCTGGC	0.657																																						uc002jzz.1		NA																	0				pancreas(1)|skin(1)	2						c.(2590-2592)GCC>ACC		solute carrier family 38, member 10 isoform a							35.0	39.0	38.0					17																	79220126		1826	4066	5892	SO:0001583	missense	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79220126C>T	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.2590G>A	17.37:g.79220126C>T	ENSP00000363891:p.Ala864Thr					SLC38A10_uc002jzy.1_Missense_Mutation_p.A782T	p.A864T	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		16	2965	-	all_neural(118;0.0804)|Melanoma(429;0.242)		864					Q6ZRC5|Q8NA99|Q96C66	Missense_Mutation	SNP	ENST00000374759.3	37	c.2590G>A	CCDS42397.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896952	0.33535	.	.	ENSG00000157637	ENST00000374759;ENST00000540966	T;T	0.49139	2.95;0.79	3.81	-1.85	0.07784	.	34.660900	0.00166	U	0.000000	T	0.34048	0.0884	L	0.52573	1.65	0.09310	N	1	B	0.33379	0.41	B	0.18561	0.022	T	0.04203	-1.0969	10	0.19590	T	0.45	-3.9264	3.666	0.08255	0.11:0.3776:0.3493:0.1631	.	864	Q9HBR0	S38AA_HUMAN	T	864;250	ENSP00000363891:A864T;ENSP00000437601:A250T	ENSP00000363891:A864T	A	-	1	0	SLC38A10	76834721	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.579000	0.05834	-0.538000	0.06281	0.467000	0.42956	GCC		0.657	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		21	61	0	0	0	0	21	61				
KDM4B	23030	broad.mit.edu	37	19	5151410	5151410	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr19:5151410G>A	ENST00000159111.4	+	23	3397	c.3179G>A	c.(3178-3180)cGc>cAc	p.R1060H	KDM4B_ENST00000536461.1_Missense_Mutation_p.R1094H	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	1060					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCCGCCAAGCGCCCGCGTGTG	0.721																																						uc002mbq.3		NA																	0				lung(1)	1						c.(3178-3180)CGC>CAC		jumonji domain containing 2B							5.0	8.0	7.0					19																	5151410		2084	4134	6218	SO:0001583	missense	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5151410G>A	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.3179G>A	19.37:g.5151410G>A	ENSP00000159111:p.Arg1060His					KDM4B_uc010xim.1_Missense_Mutation_p.R1094H|KDM4B_uc002mbr.3_Missense_Mutation_p.R818H	p.R1060H	NM_015015	NP_055830	O94953	KDM4B_HUMAN			23	3405	+			1060					B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	c.3179G>A	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618712	0.66787	.	.	ENSG00000127663	ENST00000159111;ENST00000536461	T;T	0.32272	1.46;1.46	5.0	5.0	0.66597	.	1.104600	0.06971	N	0.818189	T	0.58864	0.2152	M	0.69463	2.115	0.46564	D	0.999104	D;D	0.89917	0.999;1.0	D;D	0.78314	0.95;0.991	T	0.42682	-0.9437	10	0.54805	T	0.06	-36.7183	16.4568	0.84021	0.0:0.0:1.0:0.0	.	1094;1060	F5GX28;O94953	.;KDM4B_HUMAN	H	1060;1094	ENSP00000159111:R1060H;ENSP00000440495:R1094H	ENSP00000159111:R1060H	R	+	2	0	KDM4B	5102410	1.000000	0.71417	1.000000	0.80357	0.315000	0.28087	6.974000	0.76122	2.304000	0.77564	0.549000	0.68633	CGC		0.721	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		4	5	0	0	0	0	4	5				
MUC16	94025	broad.mit.edu	37	19	9048094	9048094	+	Silent	SNP	G	G	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr19:9048094G>T	ENST00000397910.4	-	5	33740	c.33537C>A	c.(33535-33537)acC>acA	p.T11179T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11181	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGAAGTTGTGGTCTCTGGTT	0.463																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(33535-33537)ACC>ACA		mucin 16							65.0	59.0	61.0					19																	9048094		1938	4142	6080	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9048094G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.33537C>A	19.37:g.9048094G>T							p.T11179T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	33741	-			11181			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.33537C>A	CCDS54212.1																																																																																				0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		9	34	1	0	0.000274275	0.000327324	9	34				
PLPPR2	64748	broad.mit.edu	37	19	11470367	11470367	+	Missense_Mutation	SNP	G	G	A	rs142818555	byFrequency	TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr19:11470367G>A	ENST00000251473.5	+	4	602	c.226G>A	c.(226-228)Gca>Aca	p.A76T	DKFZP761J1410_ENST00000586431.1_3'UTR|DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.A51T	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					TCTTGTCTACGCACTGGTCAC	0.637																																						uc002mre.1		NA																	0				large_intestine(1)	1						c.(226-228)GCA>ACA		lipid phosphate phosphatase-related protein type							76.0	62.0	66.0					19																	11470367		2203	4300	6503	SO:0001583	missense	64748					integral to membrane	phosphatidate phosphatase activity	g.chr19:11470367G>A																												ENST00000251473.5:c.226G>A	19.37:g.11470367G>A	ENSP00000251473:p.Ala76Thr					LPPR2_uc002mrf.1_Missense_Mutation_p.A51T|LPPR2_uc010dxy.1_5'Flank	p.A76T	NM_022737	NP_073574	Q96GM1	LPPR2_HUMAN			4	563	+			76			Helical; (Potential).			Missense_Mutation	SNP	ENST00000251473.5	37	c.226G>A	CCDS12258.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	12.88	2.069909	0.36566	.	.	ENSG00000105520	ENST00000251473	T	0.31769	1.48	5.27	1.73	0.24493	.	0.388073	0.29266	N	0.012645	T	0.11623	0.0283	N	0.12746	0.255	0.37434	D	0.914134	P;P	0.45396	0.857;0.65	B;B	0.39217	0.294;0.154	T	0.11690	-1.0577	10	0.21540	T	0.41	-30.3096	2.2103	0.03946	0.103:0.2687:0.3807:0.2476	.	51;76	Q96GM1-2;Q96GM1	.;LPPR2_HUMAN	T	76	ENSP00000251473:A76T	ENSP00000251473:A76T	A	+	1	0	AC024575.1	11331367	0.993000	0.37304	0.999000	0.59377	0.156000	0.22039	1.733000	0.38156	1.158000	0.42547	0.443000	0.29094	GCA		0.637	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458779.1			10	38	0	0	0	0	10	38				
DCAF15	90379	broad.mit.edu	37	19	14069867	14069867	+	Silent	SNP	T	T	C			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr19:14069867T>C	ENST00000254337.6	+	7	816	c.795T>C	c.(793-795)agT>agC	p.S265S		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	265					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GTGACAGGAGTTTCTGCCAAA	0.622																																						uc002mxt.2		NA																	0				central_nervous_system(1)	1						c.(793-795)AGT>AGC		DDB1 and CUL4 associated factor 15							70.0	77.0	75.0					19																	14069867		2203	4300	6503	SO:0001819	synonymous_variant	90379							g.chr19:14069867T>C	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"""DDB1 and CUL4 associated factors"""	25095	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 72"""	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.795T>C	19.37:g.14069867T>C						DCAF15_uc002mxu.2_5'Flank	p.S265S	NM_138353	NP_612362	Q66K64	DCA15_HUMAN			7	801	+			265					B3KS86|Q96DW0|Q9BU31	Silent	SNP	ENST00000254337.6	37	c.795T>C	CCDS32926.1																																																																																				0.622	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		50	68	0	0	0	0	50	68				
NOTCH3	4854	broad.mit.edu	37	19	15284919	15284919	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr19:15284919C>T	ENST00000263388.2	-	25	4771	c.4696G>A	c.(4696-4698)Gaa>Aaa	p.E1566K		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1566					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCCCGGGGTTCGGAGCCAGGA	0.692																																						uc002nan.2		NA																	0				lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21						c.(4696-4698)GAA>AAA		Notch homolog 3 precursor							23.0	33.0	30.0					19																	15284919		2180	4272	6452	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15284919C>T	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.4696G>A	19.37:g.15284919C>T	ENSP00000263388:p.Glu1566Lys						p.E1566K	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		25	4772	-			1566			Extracellular (Potential).		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.4696G>A	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	4.207	0.037153	0.08148	.	.	ENSG00000074181	ENST00000263388	T	0.80994	-1.44	4.16	4.16	0.48862	.	.	.	.	.	T	0.49201	0.1543	N	0.02802	-0.49	0.27025	N	0.964368	P	0.48998	0.918	B	0.31191	0.125	T	0.51718	-0.8670	9	0.02654	T	1	.	13.4592	0.61217	0.0:1.0:0.0:0.0	.	1566	Q9UM47	NOTC3_HUMAN	K	1566	ENSP00000263388:E1566K	ENSP00000263388:E1566K	E	-	1	0	NOTCH3	15145919	0.004000	0.15560	0.021000	0.16686	0.323000	0.28346	1.673000	0.37534	2.156000	0.67533	0.491000	0.48974	GAA		0.692	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		11	35	0	0	0	0	11	35				
GALP	85569	broad.mit.edu	37	19	56693617	56693617	+	Silent	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr19:56693617C>T	ENST00000357330.2	+	4	295	c.213C>T	c.(211-213)gcC>gcT	p.A71A	GALP_ENST00000440823.1_3'UTR	NM_033106.3	NP_149097.1	Q9UBC7	GALP_HUMAN	galanin-like peptide	71					behavioral response to starvation (GO:0042595)|defense response to bacterium (GO:0042742)|neuropeptide signaling pathway (GO:0007218)|regulation of appetite (GO:0032098)|response to insulin (GO:0032868)	extracellular region (GO:0005576)				lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		TGTGGAAGGCCATCGGTGAGT	0.587																																						uc002qmo.1		NA																	0					0						c.(211-213)GCC>GCT		galanin-like peptide isoform 1 precursor							172.0	144.0	154.0					19																	56693617		2203	4300	6503	SO:0001819	synonymous_variant	85569				neuropeptide signaling pathway	extracellular region	hormone activity	g.chr19:56693617C>T	AF188493	CCDS12940.1, CCDS46202.1	19q13.42	2013-02-26	2007-08-24			ENSG00000197487		"""Endogenous ligands"""	24840	protein-coding gene	gene with protein product		611178				10601261	Standard	NM_033106		Approved		uc002qmo.1	Q9UBC7		ENST00000357330.2:c.213C>T	19.37:g.56693617C>T						GALP_uc010eti.2_3'UTR	p.A71A	NM_033106	NP_149097	Q9UBC7	GALP_HUMAN		GBM - Glioblastoma multiforme(193;0.0507)	4	295	+		Colorectal(82;0.000147)|Ovarian(87;0.243)	71					A1KXL3	Silent	SNP	ENST00000357330.2	37	c.213C>T	CCDS12940.1																																																																																				0.587	GALP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457832.1	NM_033106		14	18	0	0	0	0	14	18				
C2orf16	84226	broad.mit.edu	37	2	27800115	27800115	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:27800115G>T	ENST00000408964.2	+	1	727	c.676G>T	c.(676-678)Gag>Tag	p.E226*		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	226						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATTAACTCCAGAGAAAAGCTA	0.448																																						uc002rkz.3		NA																	0				large_intestine(1)	1						c.(676-678)GAG>TAG		hypothetical protein LOC84226							57.0	54.0	55.0					2																	27800115		1877	4106	5983	SO:0001587	stop_gained	84226							g.chr2:27800115G>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.676G>T	2.37:g.27800115G>T	ENSP00000386190:p.Glu226*						p.E226*	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	727	+	Acute lymphoblastic leukemia(172;0.155)		226					B9EIQ4|Q53S01|Q8ND64|Q9H088	Nonsense_Mutation	SNP	ENST00000408964.2	37	c.676G>T	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311522	0.81358	.	.	ENSG00000221843	ENST00000408964	.	.	.	4.49	1.6	0.23607	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.3192	0.21208	0.3343:0.0:0.6657:0.0	.	.	.	.	X	226	.	ENSP00000386190:E226X	E	+	1	0	C2orf16	27653619	0.000000	0.05858	0.012000	0.15200	0.472000	0.32918	-0.208000	0.09371	0.118000	0.18165	-0.244000	0.11960	GAG		0.448	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		22	48	1	0	6.33e-15	8.23e-15	22	48				
PRKD3	23683	broad.mit.edu	37	2	37543567	37543567	+	Missense_Mutation	SNP	G	G	A	rs114047527	byFrequency	TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:37543567G>A	ENST00000379066.1	-	2	863	c.101C>T	c.(100-102)aCg>aTg	p.T34M	PRKD3_ENST00000477132.1_5'Flank|PRKD3_ENST00000234179.2_Missense_Mutation_p.T34M			O94806	KPCD3_HUMAN	protein kinase D3	34					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)	p.T34M(2)		breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				AGAGAGTCCCGTCTTAGGACT	0.493													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17317	0.0		0.0	False		,,,				2504	0.0				Melanoma(80;621 1355 8613 11814 51767)	uc002rqd.2		NA																	2	Substitution - Missense(2)		large_intestine(2)	lung(2)|ovary(1)|central_nervous_system(1)	4						c.(100-102)ACG>ATG		protein kinase D3		G	MET/THR	3,4403	6.2+/-15.9	0,3,2200	82.0	79.0	80.0		101	5.4	1.0	2	dbSNP_133	80	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PRKD3	NM_005813.3	81	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	benign	34/891	37543567	4,13002	2203	4300	6503	SO:0001583	missense	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37543567G>A	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.101C>T	2.37:g.37543567G>A	ENSP00000368356:p.Thr34Met					PRKD3_uc002rqf.1_Missense_Mutation_p.T34M	p.T34M	NM_005813	NP_005804	O94806	KPCD3_HUMAN			1	656	-		all_hematologic(82;0.21)	34					D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.101C>T	CCDS1789.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.70	2.911653	0.52439	6.81E-4	1.16E-4	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.66099	-0.19;-0.19	5.39	5.39	0.77823	.	0.334374	0.32671	N	0.005787	T	0.47266	0.1436	N	0.08118	0	0.30919	N	0.728232	P;P	0.50710	0.938;0.733	B;B	0.43123	0.409;0.064	T	0.58797	-0.7573	10	0.72032	D	0.01	-11.1106	17.3603	0.87348	0.0:0.0:1.0:0.0	.	34;34	O94806-2;O94806	.;KPCD3_HUMAN	M	34	ENSP00000368356:T34M;ENSP00000234179:T34M	ENSP00000234179:T34M	T	-	2	0	PRKD3	37397071	1.000000	0.71417	0.992000	0.48379	0.929000	0.56500	8.640000	0.91028	2.524000	0.85096	0.591000	0.81541	ACG		0.493	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		26	56	0	0	0	0	26	56				
GPR75	10936	broad.mit.edu	37	2	54081573	54081573	+	Silent	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:54081573G>A	ENST00000394705.2	-	2	591	c.321C>T	c.(319-321)ttC>ttT	p.F107F	ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	107	Phe-rich.				chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGGCTGAGCTGAAGAATAACA	0.468																																						uc002rxo.3		NA																	0				ovary(1)|skin(1)	2						c.(319-321)TTC>TTT		G protein-coupled receptor 75							71.0	74.0	73.0					2																	54081573		2203	4300	6503	SO:0001819	synonymous_variant	10936					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:54081573G>A	AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"""GPCR / Class A : Orphans"""	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.321C>T	2.37:g.54081573G>A						ASB3_uc002rxi.3_Intron	p.F107F	NM_006794	NP_006785	O95800	GPR75_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		2	592	-			107			Helical; Name=2; (Potential).|Phe-rich.		B2RC02|Q6NWR2	Silent	SNP	ENST00000394705.2	37	c.321C>T	CCDS1849.1																																																																																				0.468	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2			4	72	0	0	0	0	4	72				
SPTBN1	6711	broad.mit.edu	37	2	54753667	54753667	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:54753667C>T	ENST00000356805.4	+	2	393	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W	AC092839.3_ENST00000433475.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	38	Actin-binding.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CAGCTCTGCGCGGCTTTTTGA	0.527																																						uc002rxu.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(112-114)CGG>TGG		spectrin, beta, non-erythrocytic 1 isoform 1							123.0	112.0	116.0					2																	54753667		2203	4300	6503	SO:0001583	missense	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54753667C>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.112C>T	2.37:g.54753667C>T	ENSP00000349259:p.Arg38Trp					SPTBN1_uc002rxv.1_Missense_Mutation_p.R38W|RPL23AP32_uc010yot.1_5'Flank	p.R38W	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		2	361	+			38			Actin-binding.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.112C>T	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825847	0.71143	.	.	ENSG00000115306	ENST00000356805;ENST00000389980	T;T	0.27104	1.69;1.69	5.77	-2.1	0.07210	Calponin homology domain (1);	0.000000	0.64402	D	0.000001	T	0.52581	0.1743	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66767	-0.5840	10	0.87932	D	0	.	19.1556	0.93509	0.5699:0.4301:0.0:0.0	.	38	Q01082	SPTB2_HUMAN	W	38	ENSP00000349259:R38W;ENSP00000374630:R38W	ENSP00000349259:R38W	R	+	1	2	SPTBN1	54607171	0.001000	0.12720	0.038000	0.18304	0.935000	0.57460	-0.072000	0.11486	-0.233000	0.09797	-0.158000	0.13435	CGG		0.527	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			13	64	0	0	0	0	13	64				
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					protein targeting to Golgi (GO:0000042)			p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373																																						uc010ywi.1		NA																	6	Substitution - Missense(6)		endometrium(6)	ovary(1)	1						c.(2266-2268)AAC>GAC		RANBP2-like and GRIP domain containing 3							164.0	133.0	142.0					2																	107049681		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049681T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp						p.N756D	NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN			16	2323	-			756					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2266A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		3	172	0	0	0	0	3	172				
SLC5A7	60482	broad.mit.edu	37	2	108625031	108625031	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:108625031G>T	ENST00000264047.2	+	8	1282	c.1006G>T	c.(1006-1008)Ggt>Tgt	p.G336C	SLC5A7_ENST00000409059.1_Missense_Mutation_p.G336C|SLC5A7_ENST00000540517.1_Missense_Mutation_p.G231C	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	336					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTCTTTCTTTGGTCTTGGTGC	0.443																																						uc002tdv.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1006-1008)GGT>TGT		solute carrier family 5 (choline transporter),	Choline(DB00122)						192.0	164.0	174.0					2																	108625031		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108625031G>T	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1006G>T	2.37:g.108625031G>T	ENSP00000264047:p.Gly336Cys					SLC5A7_uc010ywm.1_Missense_Mutation_p.G89C|SLC5A7_uc010fjj.2_Missense_Mutation_p.G336C|SLC5A7_uc010ywn.1_Missense_Mutation_p.G223C	p.G336C	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			8	1282	+			336			Helical; (Potential).		Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.1006G>T	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909179	0.92107	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.87650	-2.28;-2.28;-2.28	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.94594	0.8258	M	0.87180	2.865	0.80722	D	1	D	0.63046	0.992	D	0.76071	0.987	D	0.94696	0.7878	10	0.66056	D	0.02	-19.2377	19.8024	0.96513	0.0:0.0:1.0:0.0	.	336	Q9GZV3	SC5A7_HUMAN	C	336;231;336	ENSP00000387346:G336C;ENSP00000445351:G231C;ENSP00000264047:G336C	ENSP00000264047:G336C	G	+	1	0	SLC5A7	107991463	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.813000	0.99286	2.752000	0.94435	0.655000	0.94253	GGT		0.443	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			18	25	1	0	2.94e-08	3.71e-08	18	25				
GPR39	2863	broad.mit.edu	37	2	133174856	133174856	+	Silent	SNP	T	T	C			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:133174856T>C	ENST00000329321.3	+	1	710	c.241T>C	c.(241-243)Ttg>Ctg	p.L81L		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	81					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTCGGACATCTTGGTGTTCCT	0.547																																						uc002ttl.2		NA																	0					0						c.(241-243)TTG>CTG		G protein-coupled receptor 39							250.0	225.0	233.0					2																	133174856		2203	4300	6503	SO:0001819	synonymous_variant	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133174856T>C	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.241T>C	2.37:g.133174856T>C							p.L81L	NM_001508	NP_001499	O43194	GPR39_HUMAN			1	710	+			81			Helical; Name=2; (Potential).		B2RC12|B6V9G4|Q08AS2|Q53R01	Silent	SNP	ENST00000329321.3	37	c.241T>C	CCDS2170.1																																																																																				0.547	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			3	113	0	0	0	0	3	113				
LY75	4065	broad.mit.edu	37	2	160690588	160690588	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:160690588G>A	ENST00000263636.4	-	27	3835	c.3808C>T	c.(3808-3810)Cag>Tag	p.Q1270*	LY75_ENST00000553424.1_Nonsense_Mutation_p.Q1270*|LY75-CD302_ENST00000505052.1_Nonsense_Mutation_p.Q1270*|LY75-CD302_ENST00000504764.1_Nonsense_Mutation_p.Q1270*|LY75_ENST00000554112.1_Nonsense_Mutation_p.Q1270*	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1270	C-type lectin 8. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ACTTCATCCTGTGTTGTTGCC	0.348																																						uc002ubc.3		NA																	0					0						c.(3808-3810)CAG>TAG		lymphocyte antigen 75 precursor							138.0	123.0	128.0					2																	160690588		2203	4300	6503	SO:0001587	stop_gained	4065				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	g.chr2:160690588G>A	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.3808C>T	2.37:g.160690588G>A	ENSP00000263636:p.Gln1270*					LY75_uc002ubb.3_Nonsense_Mutation_p.Q1270*|LY75_uc010fos.2_Nonsense_Mutation_p.Q1270*	p.Q1270*	NM_002349	NP_002340	O60449	LY75_HUMAN		COAD - Colon adenocarcinoma(177;0.132)	27	3877	-			1270			Extracellular (Potential).|C-type lectin 8.		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Nonsense_Mutation	SNP	ENST00000263636.4	37	c.3808C>T	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	G	40	8.063252	0.98635	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	.	.	.	5.64	3.55	0.40652	.	1.277740	0.06100	U	0.665222	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	1.5652	6.1214	0.20155	0.0876:0.0:0.5044:0.4079	.	.	.	.	X	1270	.	ENSP00000423463:Q1270X	Q	-	1	0	LY75;LY75-CD302	160398834	0.050000	0.20438	0.371000	0.25978	0.340000	0.28889	0.608000	0.24223	1.490000	0.48466	0.655000	0.94253	CAG		0.348	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			16	32	0	0	0	0	16	32				
XIRP2	129446	broad.mit.edu	37	2	168107151	168107151	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:168107151A>T	ENST00000409195.1	+	9	9338	c.9249A>T	c.(9247-9249)caA>caT	p.Q3083H	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q2861H|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q3083H	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2908					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TACAGCACCAAGTAGCAGCTC	0.353																																						uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(9247-9249)CAA>CAT		xin actin-binding repeat containing 2 isoform 1							83.0	80.0	81.0					2																	168107151		1910	4132	6042	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168107151A>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9249A>T	2.37:g.168107151A>T	ENSP00000386840:p.Gln3083His					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.Q2908H|XIRP2_uc010fpq.2_Missense_Mutation_p.Q2861H|XIRP2_uc010fpr.2_Intron	p.Q3083H	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	9267	+			2908					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.9249A>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	11.53	1.666090	0.29604	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02787	4.16;4.16;4.17	5.01	3.86	0.44501	.	0.613308	0.16071	N	0.230997	T	0.05456	0.0144	L	0.57536	1.79	0.37392	D	0.9125	P;P;D	0.53151	0.838;0.899;0.958	B;P;P	0.48141	0.28;0.471;0.568	T	0.38585	-0.9654	10	0.62326	D	0.03	-3.2169	5.4027	0.16305	0.7619:0.0:0.084:0.1541	.	2908;2908;2861	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	H	3083;3083;2861;497	ENSP00000386840:Q3083H;ENSP00000295237:Q3083H;ENSP00000387255:Q2861H	ENSP00000295237:Q3083H	Q	+	3	2	XIRP2	167815397	0.470000	0.25854	0.927000	0.36925	0.372000	0.29890	1.095000	0.30964	0.940000	0.37473	0.455000	0.32223	CAA		0.353	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		23	29	0	0	0	0	23	29				
WIPF1	7456	broad.mit.edu	37	2	175446145	175446145	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:175446145A>C	ENST00000392547.2	-	3	173	c.74T>G	c.(73-75)tTg>tGg	p.L25W	WIPF1_ENST00000409891.1_Missense_Mutation_p.L25W|WIPF1_ENST00000409415.3_Missense_Mutation_p.L25W|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000410117.1_Missense_Mutation_p.L25W|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.L25W|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.L25W|WIPF1_ENST00000392546.2_Missense_Mutation_p.L25W	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	25					actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						TGTCTTATTCAAGGTAGGCTT	0.443																																						uc002uiy.2		NA																	0				ovary(1)|skin(1)	2						c.(73-75)TTG>TGG		WAS/WASL interacting protein family, member 1							179.0	166.0	171.0					2																	175446145		2203	4300	6503	SO:0001583	missense	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175446145A>C	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.74T>G	2.37:g.175446145A>C	ENSP00000376330:p.Leu25Trp					uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.L25W|WIPF1_uc010fqt.1_Missense_Mutation_p.L25W|WIPF1_uc002ujc.1_Missense_Mutation_p.L25W|WIPF1_uc002uiz.2_Missense_Mutation_p.L25W|WIPF1_uc002ujb.1_Missense_Mutation_p.L25W|WIPF1_uc010zep.1_Missense_Mutation_p.L25W	p.L25W	NM_003387	NP_003378	O43516	WIPF1_HUMAN			4	406	-			25					B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	ENST00000392547.2	37	c.74T>G	CCDS2260.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.558359	0.86231	.	.	ENSG00000115935	ENST00000392547;ENST00000392548;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415;ENST00000455428;ENST00000410117;ENST00000436221	T;T;T;T;T;T	0.58060	1.09;1.07;1.09;1.09;0.43;0.36	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000003	T	0.74068	0.3668	M	0.80183	2.485	0.54753	D	0.999985	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	T	0.78344	-0.2240	10	0.87932	D	0	.	15.3288	0.74190	1.0:0.0:0.0:0.0	.	25;25;25;25	O43516-3;E9PB87;O43516-2;O43516	.;.;.;WIPF1_HUMAN	W	25	ENSP00000376330:L25W;ENSP00000272746:L25W;ENSP00000352802:L25W;ENSP00000376329:L25W;ENSP00000386431:L25W;ENSP00000387150:L25W	ENSP00000272746:L25W	L	-	2	0	WIPF1	175154391	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.488000	0.90458	2.116000	0.64780	0.533000	0.62120	TTG		0.443	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		45	156	0	0	0	0	45	156				
TTN	7273	broad.mit.edu	37	2	179400029	179400029	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:179400029G>T	ENST00000591111.1	-	308	96614	c.96390C>A	c.(96388-96390)agC>agA	p.S32130R	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S24831R|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S24898R|TTN_ENST00000589042.1_Missense_Mutation_p.S33771R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S31203R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S24706R|TTN-AS1_ENST00000588716.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32130	Fibronectin type-III 132. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGAAGGCTTGCTCAGACCAA	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.(93607-93609)AGC>AGA		titin isoform N2-A							149.0	139.0	142.0					2																	179400029		1848	4097	5945	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179400029G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.96390C>A	2.37:g.179400029G>T	ENSP00000465570:p.Ser32130Arg					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S24898R|TTN_uc010zfi.1_Missense_Mutation_p.S24831R|TTN_uc010zfj.1_Missense_Mutation_p.S24706R	p.S31203R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	93833	-			32130					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.93609C>A		.	.	.	.	.	.	.	.	.	.	G	12.39	1.924703	0.34002	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.52	4.65	0.58169	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85031	0.5604	H	0.94698	3.57	0.46521	D	0.999088	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	0.87598	0.2495	9	0.87932	D	0	.	10.1153	0.42587	0.2108:0.0:0.7892:0.0	.	24706;24831;24898;32130	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	31203;24706;24898;24831;24703	ENSP00000343764:S31203R;ENSP00000434586:S24706R;ENSP00000340554:S24898R;ENSP00000352154:S24831R	ENSP00000340554:S24898R	S	-	3	2	TTN	179108275	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.462000	0.35266	1.465000	0.48006	0.557000	0.71058	AGC		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		42	66	1	0	6.46e-13	8.36e-13	42	66				
TTN	7273	broad.mit.edu	37	2	179596116	179596116	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:179596116C>T	ENST00000591111.1	-	57	16650	c.16426G>A	c.(16426-16428)Gaa>Aaa	p.E5476K	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E5793K|TTN_ENST00000342992.6_Missense_Mutation_p.E4549K|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12305	Ig-like 35.				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)			TGCTTGACTTCAATGCCACTG	0.403																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(13645-13647)GAA>AAA		titin isoform N2-A							209.0	203.0	205.0					2																	179596116		1946	4149	6095	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179596116C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.16426G>A	2.37:g.179596116C>T	ENSP00000465570:p.Glu5476Lys					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1210K	p.E4549K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		56	13869	-			5476					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.13645G>A		.	.	.	.	.	.	.	.	.	.	C	10.48	1.362504	0.24684	.	.	ENSG00000155657	ENST00000342992	T	0.67171	-0.25	5.72	5.72	0.89469	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55417	0.1919	L	0.27053	0.805	0.80722	D	1	B	0.12630	0.006	B	0.17433	0.018	T	0.54043	-0.8352	9	0.87932	D	0	.	13.131	0.59382	0.0:0.9274:0.0:0.0726	.	5476	Q8WZ42	TITIN_HUMAN	K	4549	ENSP00000343764:E4549K	ENSP00000343764:E4549K	E	-	1	0	TTN	179304361	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.455000	0.44988	2.717000	0.92951	0.655000	0.94253	GAA		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	175	0	0	0	0	9	175				
COL3A1	1281	broad.mit.edu	37	2	189857641	189857641	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:189857641G>T	ENST00000304636.3	+	15	1195	c.1025G>T	c.(1024-1026)gGa>gTa	p.G342V	COL3A1_ENST00000317840.5_Missense_Mutation_p.G342V	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	342	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GGAACTGCCGGATTCCCTGGA	0.393																																						uc002uqj.1		NA																	0				central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(1024-1026)GGA>GTA		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						92.0	100.0	97.0					2																	189857641		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189857641G>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1025G>T	2.37:g.189857641G>T	ENSP00000304408:p.Gly342Val					COL3A1_uc010frw.1_RNA	p.G342V	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		15	1142	+			342			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.1025G>T	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116417	0.77323	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.99637	-6.29;-6.29	5.8	5.8	0.92144	.	0.000000	0.47852	D	0.000207	D	0.99832	0.9924	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96905	0.9663	10	0.87932	D	0	.	20.0545	0.97645	0.0:0.0:1.0:0.0	.	342	P02461	CO3A1_HUMAN	V	342	ENSP00000304408:G342V;ENSP00000315243:G342V	ENSP00000304408:G342V	G	+	2	0	COL3A1	189565886	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.748000	0.94277	0.655000	0.94253	GGA		0.393	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		37	37	1	0	8.16e-20	1.07e-19	37	37				
CPS1	1373	broad.mit.edu	37	2	211471497	211471497	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:211471497C>T	ENST00000233072.5	+	18	2220	c.2024C>T	c.(2023-2025)gCc>gTc	p.A675V	CPS1_ENST00000430249.2_Missense_Mutation_p.A681V|CPS1_ENST00000451903.2_Missense_Mutation_p.A224V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	675	ATP-grasp 1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CTCTCCAATGCCGAGTTTCAG	0.453																																						uc002vee.3		NA																	0				ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(2023-2025)GCC>GTC		carbamoyl-phosphate synthetase 1 isoform b							136.0	124.0	128.0					2																	211471497		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211471497C>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2024C>T	2.37:g.211471497C>T	ENSP00000233072:p.Ala675Val					CPS1_uc010fur.2_Missense_Mutation_p.A681V|CPS1_uc010fus.2_Missense_Mutation_p.A224V	p.A675V	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	18	2156	+			675			ATP-grasp 1.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.2024C>T	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001349	0.54254	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97209	-4.29;-4.29;-4.29	5.83	4.95	0.65309	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.098629	0.64402	D	0.000002	D	0.91848	0.7420	N	0.11106	0.095	0.33424	D	0.580205	B;B	0.33000	0.393;0.393	B;B	0.31101	0.124;0.124	D	0.93815	0.7113	10	0.62326	D	0.03	-1.0306	13.2978	0.60307	0.4319:0.5681:0.0:0.0	.	685;675	Q59HF8;P31327	.;CPSM_HUMAN	V	681;683;675;224	ENSP00000402608:A681V;ENSP00000233072:A675V;ENSP00000406136:A224V	ENSP00000233072:A675V	A	+	2	0	CPS1	211179742	1.000000	0.71417	0.842000	0.33263	0.916000	0.54674	2.983000	0.49345	1.477000	0.48234	0.586000	0.80456	GCC		0.453	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			19	20	0	0	0	0	19	20				
OBSL1	23363	broad.mit.edu	37	2	220422982	220422982	+	Silent	SNP	G	G	A	rs377322292		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:220422982G>A	ENST00000404537.1	-	10	3482	c.3426C>T	c.(3424-3426)caC>caT	p.H1142H	OBSL1_ENST00000265317.5_Silent_p.H133H|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000373876.1_Silent_p.H1142H|OBSL1_ENST00000265318.4_Intron|OBSL1_ENST00000603926.1_Silent_p.H1142H	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1142	Ig-like 9.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CAGGCTGGGCGTGGGGCAGGG	0.667																																						uc010fwk.2		NA																	0					0						c.(3424-3426)CAC>CAT		obscurin-like 1		A	,	0,4094		0,0,2047	25.0	30.0	29.0		3426,3426	-3.5	0.9	2		29	1,8369		0,1,4184	no	coding-synonymous,coding-synonymous	OBSL1	NM_001173431.1,NM_015311.2	,	0,1,6231	AA,AG,GG		0.0119,0.0,0.0080	,	1142/1544,1142/1897	220422982	1,12463	2047	4185	6232	SO:0001819	synonymous_variant	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220422982G>A	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.3426C>T	2.37:g.220422982G>A						OBSL1_uc002vmh.1_Silent_p.H133H|OBSL1_uc010zli.1_Intron|OBSL1_uc010fwl.1_Silent_p.H617H	p.H1142H	NM_015311	NP_056126	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	10	3483	-		Renal(207;0.0376)	1142			Ig-like 9.		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	ENST00000404537.1	37	c.3426C>T	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	g	0.024	-1.386679	0.01194	0.0	1.19E-4	ENSG00000124006	ENST00000456147	.	.	.	4.47	-3.51	0.04696	.	.	.	.	.	T	0.29355	0.0731	.	.	.	0.19775	N	0.999953	.	.	.	.	.	.	T	0.35276	-0.9795	4	.	.	.	.	8.4131	0.32655	0.3894:0.0:0.4821:0.1284	.	.	.	.	M	136	.	.	T	-	2	0	OBSL1	220131226	0.000000	0.05858	0.944000	0.38274	0.165000	0.22458	-3.021000	0.00642	-0.640000	0.05495	-3.141000	0.00059	ACG		0.667	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			11	7	0	0	0	0	11	7				
PLCB1	23236	broad.mit.edu	37	20	8755221	8755221	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr20:8755221C>T	ENST00000338037.6	+	27	2993	c.2966C>T	c.(2965-2967)aCg>aTg	p.T989M	PLCB1_ENST00000378641.3_Missense_Mutation_p.T989M|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.T989M	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	989					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.T989M(1)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GGTTCATCAACGATTGAGCAA	0.463																																						uc002wnb.2		NA																	1	Substitution - Missense(1)		prostate(1)	ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(2965-2967)ACG>ATG		phosphoinositide-specific phospholipase C beta 1							122.0	122.0	122.0					20																	8755221		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8755221C>T	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.2966C>T	20.37:g.8755221C>T	ENSP00000338185:p.Thr989Met					PLCB1_uc010zrb.1_Missense_Mutation_p.T888M|PLCB1_uc002wna.2_Missense_Mutation_p.T989M|PLCB1_uc002wnc.1_Missense_Mutation_p.T888M|PLCB1_uc002wnd.1_Missense_Mutation_p.T566M	p.T989M	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			27	2969	+			989					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.2966C>T	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079100	0.55753	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.20738	2.06;2.05;2.06	5.63	4.69	0.59074	.	0.179666	0.47455	D	0.000239	T	0.22044	0.0531	N	0.14661	0.345	0.28382	N	0.919509	D;D	0.71674	0.983;0.998	B;P	0.53549	0.353;0.729	T	0.05733	-1.0867	10	0.49607	T	0.09	.	14.6401	0.68717	0.0:0.93:0.0:0.07	.	989;989	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	M	989;989;989;909;909	ENSP00000367908:T989M;ENSP00000338185:T989M;ENSP00000367904:T989M	ENSP00000338185:T989M	T	+	2	0	PLCB1	8703221	0.504000	0.26123	0.010000	0.14722	0.905000	0.53344	3.771000	0.55318	1.379000	0.46325	0.650000	0.86243	ACG		0.463	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			42	89	0	0	0	0	42	89				
ACSS1	84532	broad.mit.edu	37	20	24994664	24994664	+	Missense_Mutation	SNP	G	G	A	rs202004508		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr20:24994664G>A	ENST00000323482.4	-	9	1464	c.1385C>T	c.(1384-1386)gCg>gTg	p.A462V	ACSS1_ENST00000432802.2_Missense_Mutation_p.A462V|ACSS1_ENST00000542618.1_Missense_Mutation_p.A341V|ACSS1_ENST00000484396.1_5'Flank|ACSS1_ENST00000537502.1_Missense_Mutation_p.A379V	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	462					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GAGGATTTCCGCCCCTTCTTC	0.587																																						uc002wub.2		NA																	0				ovary(1)|skin(1)	2						c.(1384-1386)GCG>GTG		acyl-CoA synthetase short-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	G	VAL/ALA	0,4406		0,0,2203	96.0	64.0	75.0		1385	4.0	0.8	20		75	3,8597	3.0+/-9.4	0,3,4297	yes	missense	ACSS1	NM_032501.2	64	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	462/690	24994664	3,13003	2203	4300	6503	SO:0001583	missense	84532				acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding	g.chr20:24994664G>A		CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"""Acyl-CoA synthetase family"""	16091	protein-coding gene	gene with protein product		614355	"""acetyl-Coenzyme A synthetase 2 (AMP forming)-like"""	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.1385C>T	20.37:g.24994664G>A	ENSP00000316924:p.Ala462Val					ACSS1_uc002wuc.2_Missense_Mutation_p.A460V|ACSS1_uc010gdc.2_Missense_Mutation_p.A257V|ACSS1_uc002wud.1_RNA|ACSS1_uc002wua.2_Missense_Mutation_p.A379V	p.A462V	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN			9	2263	-			462					B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Missense_Mutation	SNP	ENST00000323482.4	37	c.1385C>T	CCDS13167.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.695052	0.48202	0.0	3.49E-4	ENSG00000154930	ENST00000323482;ENST00000376727;ENST00000537502;ENST00000432802;ENST00000542618	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.0	4.03	0.46877	AMP-dependent synthetase/ligase (1);	0.051967	0.85682	D	0.000000	T	0.43255	0.1239	N	0.10972	0.075	0.80722	D	1	D;P;P;P	0.89917	1.0;0.939;0.951;0.951	D;P;P;P	0.69654	0.965;0.591;0.714;0.714	T	0.49698	-0.8912	10	0.51188	T	0.08	-48.945	13.7099	0.62661	0.0:0.0:0.8442:0.1558	.	257;460;462;379	E9PC79;Q9NUB1-2;Q9NUB1;Q6ZV30	.;.;ACS2L_HUMAN;.	V	462;257;379;462;341	ENSP00000316924:A462V;ENSP00000439304:A379V;ENSP00000388793:A462V;ENSP00000437657:A341V	ENSP00000316924:A462V	A	-	2	0	ACSS1	24942664	1.000000	0.71417	0.792000	0.32020	0.138000	0.21146	4.272000	0.58908	1.199000	0.43173	-0.311000	0.09066	GCG		0.587	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501		8	18	0	0	0	0	8	18				
ZNF831	128611	broad.mit.edu	37	20	57767141	57767141	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr20:57767141C>T	ENST00000371030.2	+	1	1067	c.1067C>T	c.(1066-1068)cCg>cTg	p.P356L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	356							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCGGAGCAGCCGCATGCGCCC	0.756																																						uc002yan.2		NA																	0				skin(13)|ovary(1)	14						c.(1066-1068)CCG>CTG		zinc finger protein 831							12.0	14.0	14.0					20																	57767141		1567	3503	5070	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767141C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1067C>T	20.37:g.57767141C>T	ENSP00000360069:p.Pro356Leu						p.P356L	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	1067	+	all_lung(29;0.0085)		356					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.1067C>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410603	0.42715	.	.	ENSG00000124203	ENST00000371030	T	0.10668	2.85	5.4	4.4	0.53042	.	.	.	.	.	T	0.18923	0.0454	L	0.54323	1.7	0.39254	D	0.964093	D	0.71674	0.998	P	0.53722	0.733	T	0.00597	-1.1652	9	0.66056	D	0.02	-13.4019	10.5388	0.45020	0.3806:0.6194:0.0:0.0	.	356	Q5JPB2	ZN831_HUMAN	L	356	ENSP00000360069:P356L	ENSP00000360069:P356L	P	+	2	0	ZNF831	57200536	0.999000	0.42202	0.894000	0.35097	0.065000	0.16274	4.426000	0.59882	2.548000	0.85928	0.655000	0.94253	CCG		0.756	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		23	16	0	0	0	0	23	16				
CELSR1	9620	broad.mit.edu	37	22	46776786	46776786	+	Silent	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr22:46776786C>T	ENST00000262738.3	-	22	7154	c.7155G>A	c.(7153-7155)ccG>ccA	p.P2385P		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2385					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTCTCGGGAGCGGAGCCCCCT	0.627																																						uc003bhw.1		NA																	0				lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(7153-7155)CCG>CCA		cadherin EGF LAG seven-pass G-type receptor 1							40.0	42.0	41.0					22																	46776786		2203	4300	6503	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46776786C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.7155G>A	22.37:g.46776786C>T						CELSR1_uc011arc.1_Silent_p.P706P	p.P2385P	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	22	7155	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	2385			Extracellular (Potential).		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.7155G>A	CCDS14076.1																																																																																				0.627	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		17	38	0	0	0	0	17	38				
PLXNB2	23654	broad.mit.edu	37	22	50716420	50716420	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr22:50716420T>C	ENST00000449103.1	-	32	5050	c.4910A>G	c.(4909-4911)gAc>gGc	p.D1637G	PLXNB2_ENST00000359337.4_Missense_Mutation_p.D1637G			O15031	PLXB2_HUMAN	plexin B2	1637					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GAAGAAGTTGTCCACAAACTG	0.657																																						uc003bkv.3		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4909-4911)GAC>GGC		plexin B2 precursor							39.0	45.0	43.0					22																	50716420		2137	4255	6392	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50716420T>C		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4910A>G	22.37:g.50716420T>C	ENSP00000409171:p.Asp1637Gly					PLXNB2_uc003bkt.1_Missense_Mutation_p.D429G|PLXNB2_uc003bku.1_Missense_Mutation_p.D622G	p.D1637G	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	32	5016	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1637			Cytoplasmic (Potential).		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.4910A>G	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.221197	0.79464	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000411680	T;T;T	0.17370	2.28;2.28;2.28	4.08	4.08	0.47627	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.000000	0.64402	D	0.000001	T	0.44307	0.1287	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51810	-0.8658	10	0.87932	D	0	.	13.4923	0.61402	0.0:0.0:0.0:1.0	.	1637	O15031	PLXB2_HUMAN	G	1637;1637;189	ENSP00000409171:D1637G;ENSP00000352288:D1637G;ENSP00000400679:D189G	ENSP00000352288:D1637G	D	-	2	0	PLXNB2	49058547	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	7.516000	0.81772	1.827000	0.53221	0.402000	0.26972	GAC		0.657	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		22	37	0	0	0	0	22	37				
DOCK3	1795	broad.mit.edu	37	3	51349911	51349911	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr3:51349911G>T	ENST00000266037.9	+	30	3121	c.3098G>T	c.(3097-3099)tGg>tTg	p.W1033L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1033					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GTCTAGGTGTGGAATTCTTAC	0.373																																						uc011bds.1		NA																	0					0						c.(3097-3099)TGG>TTG		dedicator of cytokinesis 3							82.0	72.0	76.0					3																	51349911		1846	4094	5940	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51349911G>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.3098G>T	3.37:g.51349911G>T	ENSP00000266037:p.Trp1033Leu						p.W1033L	NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	30	3121	+			1033					O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.3098G>T	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890984	0.91889	.	.	ENSG00000088538	ENST00000266037	T	0.57107	0.42	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.79364	0.4433	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83221	-0.0068	10	0.87932	D	0	.	19.6506	0.95805	0.0:0.0:1.0:0.0	.	1033	Q8IZD9	DOCK3_HUMAN	L	1033	ENSP00000266037:W1033L	ENSP00000266037:W1033L	W	+	2	0	DOCK3	51324951	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.476000	0.97823	2.640000	0.89533	0.591000	0.81541	TGG		0.373	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		3	38	1	0	0.004672	0.00548534	3	38				
NAALADL2	254827	broad.mit.edu	37	3	174974310	174974310	+	Silent	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr3:174974310G>A	ENST00000454872.1	+	4	1058	c.930G>A	c.(928-930)ctG>ctA	p.L310L	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS2_ENST00000424690.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	310						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AATTGCCACTGCTTTATAAGG	0.358																																						uc003fit.2		NA																	0				pancreas(1)	1						c.(928-930)CTG>CTA		N-acetylated alpha-linked acidic dipeptidase 2							68.0	65.0	66.0					3																	174974310		1883	4118	6001	SO:0001819	synonymous_variant	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:174974310G>A		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.930G>A	3.37:g.174974310G>A						NAALADL2_uc003fiu.1_Silent_p.L303L|NAALADL2_uc010hwy.1_Silent_p.L132L|NAALADL2_uc010hwz.1_5'UTR	p.L310L	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	4	1017	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	310			Extracellular (Potential).		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Silent	SNP	ENST00000454872.1	37	c.930G>A	CCDS46960.1																																																																																				0.358	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		4	40	0	0	0	0	4	40				
TRMT44	152992	broad.mit.edu	37	4	8456493	8456493	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr4:8456493C>T	ENST00000389737.4	+	6	1156	c.1156C>T	c.(1156-1158)Cga>Tga	p.R386*	RP11-689P11.3_ENST00000515186.1_RNA|TRMT44_ENST00000513449.2_Nonsense_Mutation_p.R145*	NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)	386					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										GATTGATGTCCGAAGAAGAAA	0.393																																						uc003glg.1		NA																	0					0						c.(469-471)CGA>TGA		hypothetical protein LOC152992 isoform 2							133.0	127.0	129.0					4																	8456493		2203	4300	6503	SO:0001587	stop_gained	152992				tRNA processing	cytoplasm	methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr4:8456493C>T	AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"""tRNA methyltransferase 44 homolog (S. cerevisiae)"""	614309	"""chromosome 4 open reading frame 23"", ""methyltransferase like 19"""	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935	ENST00000389737.4:c.1156C>T	4.37:g.8456493C>T	ENSP00000374387:p.Arg386*					C4orf23_uc003glf.1_Nonsense_Mutation_p.R145*|C4orf23_uc003glh.1_5'UTR	p.R157*	NM_152544	NP_689757	Q8IYL2	TRM44_HUMAN			6	657	+			386					Q8NA95	Nonsense_Mutation	SNP	ENST00000389737.4	37	c.469C>T	CCDS3402.2	.	.	.	.	.	.	.	.	.	.	c	38	6.988104	0.97983	.	.	ENSG00000155275	ENST00000513449;ENST00000389737	.	.	.	4.33	2.43	0.29744	.	0.074615	0.51477	U	0.000089	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.9651	6.1014	0.20049	0.3678:0.5321:0.0:0.1001	.	.	.	.	X	145;386	.	ENSP00000374387:R386X	R	+	1	2	METTL19	8507393	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.998000	0.49465	0.955000	0.37878	-0.132000	0.14878	CGA		0.393	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359197.2	NM_152544		29	68	0	0	0	0	29	68				
DNAH5	1767	broad.mit.edu	37	5	13919309	13919309	+	Silent	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr5:13919309C>T	ENST00000265104.4	-	7	1055	c.951G>A	c.(949-951)gcG>gcA	p.A317A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	317	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACTTGGCCGCCGCAAGCACTG	0.463									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(949-951)GCG>GCA		dynein, axonemal, heavy chain 5							86.0	95.0	92.0					5																	13919309		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13919309C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.951G>A	5.37:g.13919309C>T						DNAH5_uc003jfe.1_RNA	p.A317A	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			7	993	-	Lung NSC(4;0.00476)		317			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.951G>A	CCDS3882.1																																																																																				0.463	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		42	104	0	0	0	0	42	104				
AFF4	27125	broad.mit.edu	37	5	132232472	132232472	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr5:132232472G>C	ENST00000265343.5	-	11	2229	c.1850C>G	c.(1849-1851)tCt>tGt	p.S617C	AFF4_ENST00000378595.3_Missense_Mutation_p.S617C	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	617					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGAAGACTTAGACTCCTTCTT	0.433																																					Ovarian(126;889 1733 2942 10745 11605)	uc003kyd.2		NA																	0				ovary(2)|kidney(2)|skin(1)	5						c.(1849-1851)TCT>TGT		ALL1 fused gene from 5q31							61.0	57.0	58.0					5																	132232472		2203	4300	6503	SO:0001583	missense	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132232472G>C	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.1850C>G	5.37:g.132232472G>C	ENSP00000265343:p.Ser617Cys					AFF4_uc011cxk.1_Missense_Mutation_p.S295C|AFF4_uc003kye.1_Missense_Mutation_p.S617C	p.S617C	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		11	2258	-		all_cancers(142;0.145)|Breast(839;0.198)	617					B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	ENST00000265343.5	37	c.1850C>G	CCDS4164.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811652	0.70797	.	.	ENSG00000072364	ENST00000265343;ENST00000378595	T;T	0.65178	-0.14;-0.14	5.24	5.24	0.73138	.	0.206927	0.51477	D	0.000085	T	0.55353	0.1915	N	0.08118	0	0.43489	D	0.995724	P;P	0.48016	0.904;0.512	P;B	0.50192	0.634;0.273	T	0.65409	-0.6175	10	0.72032	D	0.01	0.2789	19.1842	0.93635	0.0:0.0:1.0:0.0	.	617;617	Q9UHB7-2;Q9UHB7	.;AFF4_HUMAN	C	617	ENSP00000265343:S617C;ENSP00000367858:S617C	ENSP00000265343:S617C	S	-	2	0	AFF4	132260371	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.311000	0.78958	2.590000	0.87494	0.563000	0.77884	TCT		0.433	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		36	26	0	0	0	0	36	26				
SLC25A2	83884	broad.mit.edu	37	5	140683343	140683343	+	Silent	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr5:140683343G>A	ENST00000239451.4	-	1	269	c.90C>T	c.(88-90)ttC>ttT	p.F30F		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	30					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.F30F(1)		breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	TTATTGTGTCGAAGGGCTGCC	0.597																																						uc003ljf.2		NA																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(88-90)TTC>TTT		solute carrier family 25 member 2	L-Ornithine(DB00129)						74.0	73.0	73.0					5																	140683343		2203	4300	6503	SO:0001819	synonymous_variant	83884				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	g.chr5:140683343G>A	AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"""Solute carriers"""	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.90C>T	5.37:g.140683343G>A							p.F30F	NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	1	270	-		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	30			Solcar 1.		Q496C1|Q6XUI0|Q8NFZ2	Silent	SNP	ENST00000239451.4	37	c.90C>T	CCDS4258.1																																																																																				0.597	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2	NM_031947		8	71	0	0	0	0	8	71				
MFAP3	4238	broad.mit.edu	37	5	153432559	153432559	+	Silent	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr5:153432559C>T	ENST00000436816.1	+	3	594	c.375C>T	c.(373-375)ttC>ttT	p.F125F	MFAP3_ENST00000439768.2_5'UTR|MFAP3_ENST00000322602.5_Silent_p.F125F	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	125	Ig-like C2-type.				extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		ATACCTGTTTCGTCACCTCTC	0.438																																						uc003lvf.2		NA																	0					0						c.(373-375)TTC>TTT		microfibrillar-associated protein 3 isoform 2							228.0	214.0	219.0					5																	153432559		2203	4300	6503	SO:0001819	synonymous_variant	4238					integral to membrane|plasma membrane		g.chr5:153432559C>T		CCDS4324.1, CCDS47319.1	5q32-q33.2	2013-01-11			ENSG00000037749	ENSG00000037749		"""Immunoglobulin superfamily / I-set domain containing"""	7034	protein-coding gene	gene with protein product		600491				7782085	Standard	NM_005927		Approved		uc010jib.2	P55082	OTTHUMG00000130149	ENST00000436816.1:c.375C>T	5.37:g.153432559C>T						MFAP3_uc010jib.2_Silent_p.F125F|MFAP3_uc011ddb.1_5'UTR	p.F125F	NM_001135037	NP_001128509	P55082	MFAP3_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)	3	891	+	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	125			Ig-like C2-type.|Extracellular (Potential).		B2RDK0|B4DKA1|Q9NXA7	Silent	SNP	ENST00000436816.1	37	c.375C>T	CCDS4324.1																																																																																				0.438	MFAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252457.2	NM_005927		44	44	0	0	0	0	44	44				
NHP2	55651	broad.mit.edu	37	5	177577981	177577981	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr5:177577981C>A	ENST00000274606.3	-	3	393	c.244G>T	c.(244-246)Gca>Tca	p.A82S	NHP2_ENST00000314397.4_Intron	NM_017838.3	NP_060308.1	Q9NX24	NHP2_HUMAN	NHP2 ribonucleoprotein	82					rRNA pseudouridine synthesis (GO:0031118)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			endometrium(1)|kidney(1)|ovary(2)	4						GTGTCTCCTGCCAAAACCATG	0.483																																						uc003mir.2		NA																	0					0						c.(244-246)GCA>TCA		nucleolar protein family A, member 2 isoform a							188.0	167.0	174.0					5																	177577981		2203	4300	6503	SO:0001583	missense	55651				rRNA pseudouridine synthesis	Cajal body|nucleolus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr5:177577981C>A	AF161404	CCDS4432.1, CCDS34308.1	5q35.3	2014-09-17	2012-12-10	2008-10-13	ENSG00000145912	ENSG00000145912			14377	protein-coding gene	gene with protein product		606470	"""nucleolar protein family A, member 2 (H/ACA small nucleolar RNPs)"", ""NHP2 ribonucleoprotein homolog (yeast)"""	NOLA2		11074001	Standard	NM_017838		Approved	FLJ20479	uc003mir.2	Q9NX24	OTTHUMG00000130886	ENST00000274606.3:c.244G>T	5.37:g.177577981C>A	ENSP00000274606:p.Ala82Ser					NHP2_uc003mis.2_Intron	p.A82S	NM_017838	NP_060308	Q9NX24	NHP2_HUMAN			3	387	-			82					A6NKY8|Q9P095	Missense_Mutation	SNP	ENST00000274606.3	37	c.244G>T	CCDS4432.1	.	.	.	.	.	.	.	.	.	.	c	29.6	5.021049	0.93462	.	.	ENSG00000145912	ENST00000274606;ENST00000502263;ENST00000514354;ENST00000511078	T;T;T;T	0.72051	-0.47;-0.62;-0.47;-0.47	5.42	5.42	0.78866	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.000000	0.85682	D	0.000000	D	0.86653	0.5984	M	0.88310	2.945	0.80722	D	1	D	0.67145	0.996	D	0.91635	0.999	D	0.88917	0.3363	10	0.72032	D	0.01	-18.5095	16.7111	0.85385	0.0:1.0:0.0:0.0	.	82	Q9NX24	NHP2_HUMAN	S	82;35;82;82	ENSP00000274606:A82S;ENSP00000431126:A35S;ENSP00000423803:A82S;ENSP00000423849:A82S	ENSP00000274606:A82S	A	-	1	0	NHP2	177510587	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.671000	0.83941	2.525000	0.85131	0.563000	0.77884	GCA		0.483	NHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253471.1	NM_017838		16	137	1	0	2.32e-09	2.95e-09	16	137				
NEDD9	4739	broad.mit.edu	37	6	11191251	11191251	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr6:11191251G>T	ENST00000379446.5	-	5	1017	c.851C>A	c.(850-852)cCa>cAa	p.P284Q	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.P284Q	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	284					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TGCAGCTCCTGGAATGTCACA	0.577																																						uc003mzv.2		NA																	0					0						c.(850-852)CCA>CAA		neural precursor cell expressed, developmentally							89.0	81.0	84.0					6																	11191251		2203	4300	6503	SO:0001583	missense	4739				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding	g.chr6:11191251G>T	L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.851C>A	6.37:g.11191251G>T	ENSP00000368759:p.Pro284Gln					NEDD9_uc010joz.2_Missense_Mutation_p.P284Q|NEDD9_uc003mzw.3_Missense_Mutation_p.P138Q	p.P284Q	NM_006403	NP_006394	Q14511	CASL_HUMAN	Epithelial(50;0.0647)|all cancers(50;0.179)		5	1018	-	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	284					A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Missense_Mutation	SNP	ENST00000379446.5	37	c.851C>A	CCDS4520.1	.	.	.	.	.	.	.	.	.	.	G	6.861	0.528262	0.13127	.	.	ENSG00000111859	ENST00000379446;ENST00000504387	T;T	0.53640	0.61;0.8	6.01	4.23	0.50019	.	1.316990	0.04669	N	0.410316	T	0.29190	0.0726	L	0.61218	1.895	0.24148	N	0.995703	B;B;B	0.32010	0.01;0.06;0.351	B;B;B	0.31191	0.015;0.031;0.125	T	0.37103	-0.9720	10	0.59425	D	0.04	-0.5226	7.9948	0.30261	0.2932:0.0:0.7068:0.0	.	284;284;284	G5E9Y9;A8K9G7;Q14511	.;.;CASL_HUMAN	Q	284	ENSP00000368759:P284Q;ENSP00000422871:P284Q	ENSP00000368759:P284Q	P	-	2	0	NEDD9	11299237	0.094000	0.21725	0.002000	0.10522	0.001000	0.01503	2.744000	0.47450	1.549000	0.49425	0.655000	0.94253	CCA		0.577	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2	NM_006403		12	51	1	0	4.38e-07	5.43e-07	12	51				
DCDC2	51473	broad.mit.edu	37	6	24302242	24302242	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr6:24302242C>T	ENST00000378454.3	-	3	680	c.379G>A	c.(379-381)Gtg>Atg	p.V127M		NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	127					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				CGAGCTGACACGTTGATCCTG	0.353																																						uc003ndx.2		NA																	0				ovary(1)	1						c.(379-381)GTG>ATG		doublecortin domain containing 2							95.0	94.0	94.0					6																	24302242		2203	4300	6503	SO:0001583	missense	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24302242C>T	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.379G>A	6.37:g.24302242C>T	ENSP00000367715:p.Val127Met					DCDC2_uc003ndy.2_Missense_Mutation_p.V127M	p.V127M	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN			3	681	-		Ovarian(999;0.101)	127					Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Missense_Mutation	SNP	ENST00000378454.3	37	c.379G>A	CCDS4550.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478023	0.84747	.	.	ENSG00000146038	ENST00000378454	D	0.93659	-3.26	6.07	6.07	0.98685	.	0.055638	0.64402	D	0.000001	D	0.95557	0.8556	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.93827	0.7124	10	0.41790	T	0.15	-13.6623	20.6439	0.99570	0.0:1.0:0.0:0.0	.	127	Q9UHG0	DCDC2_HUMAN	M	127	ENSP00000367715:V127M	ENSP00000367715:V127M	V	-	1	0	DCDC2	24410221	1.000000	0.71417	0.984000	0.44739	0.996000	0.88848	6.117000	0.71577	2.884000	0.98904	0.655000	0.94253	GTG		0.353	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		22	43	0	0	0	0	22	43				
DDR1	780	broad.mit.edu	37	6	30856982	30856982	+	Silent	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr6:30856982G>A	ENST00000324771.8	+	6	740	c.192G>A	c.(190-192)ttG>ttA	p.L64L	DDR1_ENST00000446312.1_Silent_p.L64L|DDR1_ENST00000454612.2_Silent_p.L64L|DDR1_ENST00000418800.2_Silent_p.L64L|DDR1_ENST00000508312.1_Silent_p.L82L|DDR1_ENST00000361741.4_5'Flank|DDR1_ENST00000513240.1_Silent_p.L64L|DDR1_ENST00000376569.3_Silent_p.L64L|DDR1_ENST00000376570.4_Silent_p.L64L|MIR4640_ENST00000581824.1_RNA|DDR1_ENST00000376568.3_Silent_p.L64L|DDR1_ENST00000376575.3_Silent_p.L64L|DDR1_ENST00000452441.1_Silent_p.L64L|DDR1_ENST00000376567.2_Silent_p.L64L			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	64	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CCCTCAGGTTGGAGAGCAGTG	0.602																																						uc003nrr.2		NA																	0				lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9						c.(190-192)TTG>TTA		discoidin domain receptor family, member 1	Imatinib(DB00619)						160.0	181.0	173.0					6																	30856982		1510	2708	4218	SO:0001819	synonymous_variant	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30856982G>A	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.192G>A	6.37:g.30856982G>A						DDR1_uc010jse.2_Silent_p.L64L|DDR1_uc003nrq.2_Silent_p.L64L|DDR1_uc003nrs.2_Silent_p.L64L|DDR1_uc003nrt.2_Silent_p.L64L|DDR1_uc011dms.1_Silent_p.L82L|DDR1_uc011dmt.1_Silent_p.L90L|DDR1_uc003nru.2_Silent_p.L64L|DDR1_uc011dmu.1_Silent_p.L64L|DDR1_uc003nrv.2_Silent_p.L64L|DDR1_uc003nrw.1_5'Flank	p.L64L	NM_013993	NP_054699	Q08345	DDR1_HUMAN			5	451	+			64			Extracellular (Potential).|F5/8 type C.		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Silent	SNP	ENST00000324771.8	37	c.192G>A	CCDS34385.1	.	.	.	.	.	.	.	.	.	.	G	8.348	0.830287	0.16749	.	.	ENSG00000204580	ENST00000424544	.	.	.	4.84	1.97	0.26223	.	.	.	.	.	T	0.39436	0.1078	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26052	-1.0114	4	.	.	.	.	6.2399	0.20785	0.1703:0.0:0.6803:0.1495	.	.	.	.	R	48	.	.	G	+	1	0	DDR1	30964961	1.000000	0.71417	0.999000	0.59377	0.845000	0.48019	0.782000	0.26788	0.608000	0.30000	0.305000	0.20034	GGA		0.602	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		65	137	0	0	0	0	65	137				
OOEP	441161	broad.mit.edu	37	6	74078519	74078519	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr6:74078519A>T	ENST00000370359.5	-	3	437	c.438T>A	c.(436-438)gaT>gaA	p.D146E	OOEP_ENST00000370363.1_Missense_Mutation_p.D91E|OOEP-AS1_ENST00000445350.2_RNA	NM_001080507.2	NP_001073976.1	A6NGQ2	OOEP_HUMAN	oocyte expressed protein	146					cellular protein complex assembly (GO:0043623)|embryo implantation (GO:0007566)|embryonic pattern specification (GO:0009880)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|protein phosphorylation (GO:0006468)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|protein complex (GO:0043234)	RNA binding (GO:0003723)			large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						AAGCAACAGGATCCTGGGGAG	0.423																																						uc003pgu.3		NA																	0					0						c.(436-438)GAT>GAA		oocyte expressed protein homolog							87.0	90.0	89.0					6																	74078519		1904	4115	6019	SO:0001583	missense	441161					cytoplasm		g.chr6:74078519A>T	BC024931	CCDS47451.1	6q13	2012-02-22	2012-02-22	2007-11-13	ENSG00000203907	ENSG00000203907			21382	protein-coding gene	gene with protein product	"""KH homology domain containing 2"""	611689	"""chromosome 6 open reading frame 156"", ""oocyte expressed protein homolog (dog)"""	C6orf156		17913455	Standard	NM_001080507		Approved	Em:AC019205.2, KHDC2	uc003pgu.4	A6NGQ2	OTTHUMG00000150057	ENST00000370359.5:c.438T>A	6.37:g.74078519A>T	ENSP00000359384:p.Asp146Glu					OOEP_uc003pgv.3_Missense_Mutation_p.D91E	p.D146E	NM_001080507	NP_001073976	A6NGQ2	OOEP_HUMAN			3	438	-			146					A6NIN5|A9UIB7	Missense_Mutation	SNP	ENST00000370359.5	37	c.438T>A	CCDS47451.1	.	.	.	.	.	.	.	.	.	.	A	1.497	-0.553188	0.03996	.	.	ENSG00000203907	ENST00000370363;ENST00000370359	T;T	0.10860	2.83;2.83	3.26	-3.97	0.04094	.	2.520320	0.01586	N	0.021305	T	0.00906	0.0030	N	0.08118	0	0.09310	N	1	B;B	0.15473	0.001;0.013	B;B	0.14023	0.0;0.01	T	0.27400	-1.0075	10	0.02654	T	1	3.0355	2.9182	0.05760	0.3349:0.0:0.3237:0.3413	.	91;146	F2Z364;A6NGQ2	.;OOEP_HUMAN	E	91;146	ENSP00000359388:D91E;ENSP00000359384:D146E	ENSP00000359384:D146E	D	-	3	2	OOEP	74135240	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.571000	0.23669	-0.835000	0.04234	-0.468000	0.05107	GAT		0.423	OOEP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108414.2	NM_001080507		4	45	0	0	0	0	4	45				
CARD11	84433	broad.mit.edu	37	7	2954903	2954903	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:2954903T>C	ENST00000396946.4	-	21	3210	c.2807A>G	c.(2806-2808)gAc>gGc	p.D936G		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	936					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CTTGGTGGCGTCCAGCGAGGA	0.627			Mis		DLBCL																																	uc003smv.2		NA		Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50						c.(2806-2808)GAC>GGC		caspase recruitment domain family, member 11							105.0	96.0	99.0					7																	2954903		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2954903T>C	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2807A>G	7.37:g.2954903T>C	ENSP00000380150:p.Asp936Gly						p.D936G	NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	21	3211	-		Ovarian(82;0.0115)	936					A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.2807A>G	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	T	14.87	2.664918	0.47572	.	.	ENSG00000198286	ENST00000396946	T	0.34667	1.35	4.54	4.54	0.55810	.	0.304439	0.29328	N	0.012479	T	0.24431	0.0592	L	0.27053	0.805	0.40745	D	0.982862	P	0.41041	0.736	B	0.35550	0.205	T	0.11275	-1.0594	10	0.62326	D	0.03	-29.9373	11.6371	0.51211	0.0:0.0:0.0:1.0	.	936	Q9BXL7	CAR11_HUMAN	G	936	ENSP00000380150:D936G	ENSP00000380150:D936G	D	-	2	0	CARD11	2921429	0.999000	0.42202	0.999000	0.59377	0.900000	0.52787	4.772000	0.62324	1.680000	0.50976	0.334000	0.21626	GAC		0.627	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		3	171	0	0	0	0	3	171				
STK31	56164	broad.mit.edu	37	7	23825153	23825153	+	Silent	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:23825153C>T	ENST00000355870.3	+	18	2324	c.2205C>T	c.(2203-2205)ccC>ccT	p.P735P	STK31_ENST00000428484.1_Silent_p.P712P|STK31_ENST00000354639.3_Silent_p.P712P|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Silent_p.P735P	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	735	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATGCTGAGCCCATGAAGGAAC	0.423																																						uc003sws.3		NA																	0				skin(3)|lung(2)|ovary(2)|stomach(2)	9						c.(2203-2205)CCC>CCT		serine/threonine kinase 31 isoform a							211.0	198.0	202.0					7																	23825153		2203	4300	6503	SO:0001819	synonymous_variant	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23825153C>T	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2205C>T	7.37:g.23825153C>T						STK31_uc003swt.3_Silent_p.P712P|STK31_uc011jze.1_Silent_p.P735P|STK31_uc010kuq.2_Silent_p.P712P|STK31_uc003swv.1_5'Flank	p.P735P	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN			18	2272	+			735			Protein kinase.		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Silent	SNP	ENST00000355870.3	37	c.2205C>T	CCDS5386.1																																																																																				0.423	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		33	140	0	0	0	0	33	140				
SFRP4	6424	broad.mit.edu	37	7	37955724	37955724	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:37955724G>T	ENST00000436072.2	-	1	793	c.416C>A	c.(415-417)cCt>cAt	p.P139H	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	139	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GATGGCTTCAGGCGAGATGCA	0.652																																						uc003tfo.3		NA																	0				lung(1)	1						c.(415-417)CCT>CAT		secreted frizzled-related  protein 4 precursor							51.0	48.0	49.0					7																	37955724		2203	4300	6503	SO:0001583	missense	6424				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:37955724G>T	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.416C>A	7.37:g.37955724G>T	ENSP00000410715:p.Pro139His						p.P139H	NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN			1	802	-			139			FZ.		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	ENST00000436072.2	37	c.416C>A	CCDS5453.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462168	0.84425	.	.	ENSG00000106483	ENST00000436072;ENST00000446575	T	0.80123	-1.34	4.08	4.08	0.47627	Frizzled domain (4);	0.302799	0.37136	N	0.002238	D	0.90177	0.6930	M	0.86740	2.835	0.58432	D	0.999994	D	0.89917	1.0	D	0.81914	0.995	D	0.91395	0.5138	10	0.51188	T	0.08	.	15.2	0.73130	0.0:0.0:1.0:0.0	.	139	Q6FHJ7	SFRP4_HUMAN	H	139;136	ENSP00000410715:P139H	ENSP00000410715:P139H	P	-	2	0	SFRP4	37922249	1.000000	0.71417	0.805000	0.32314	0.911000	0.54048	9.512000	0.98008	2.097000	0.63578	0.650000	0.86243	CCT		0.652	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014		71	59	1	0	1.75e-33	2.31e-33	71	59				
LEP	3952	broad.mit.edu	37	7	127894691	127894691	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:127894691A>G	ENST00000308868.4	+	3	430	c.379A>G	c.(379-381)Acc>Gcc	p.T127A		NM_000230.2	NP_000221.1	P41159	LEP_HUMAN	leptin	127					adipose tissue development (GO:0060612)|adult feeding behavior (GO:0008343)|bile acid metabolic process (GO:0008206)|bone mineralization involved in bone maturation (GO:0035630)|cellular response to L-ascorbic acid (GO:0071298)|cellular response to retinoic acid (GO:0071300)|central nervous system neuron development (GO:0021954)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|eating behavior (GO:0042755)|energy reserve metabolic process (GO:0006112)|fatty acid beta-oxidation (GO:0006635)|female pregnancy (GO:0007565)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process (GO:0006114)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|leptin-mediated signaling pathway (GO:0033210)|leukocyte tethering or rolling (GO:0050901)|negative regulation of apoptotic process (GO:0043066)|negative regulation of appetite (GO:0032099)|negative regulation of cartilage development (GO:0061037)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of glutamine transport (GO:2000486)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vasoconstriction (GO:0045906)|ovulation from ovarian follicle (GO:0001542)|placenta development (GO:0001890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of developmental growth (GO:0048639)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of ion transport (GO:0043270)|positive regulation of luteinizing hormone secretion (GO:0033686)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of blood pressure (GO:0008217)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis (GO:0006111)|regulation of insulin secretion (GO:0050796)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of lipoprotein lipid oxidation (GO:0060587)|regulation of steroid biosynthetic process (GO:0050810)|response to dietary excess (GO:0002021)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to vitamin E (GO:0033197)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)				endometrium(1)|large_intestine(2)|lung(5)	8						TGGCCTGGAGACCTTGGACAG	0.607																																						uc003vml.2		NA																	0					0						c.(379-381)ACC>GCC		leptin precursor							44.0	45.0	45.0					7																	127894691		2203	4300	6503	SO:0001583	missense	3952				adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space		g.chr7:127894691A>G		CCDS5800.1	7q31	2008-03-06	2008-03-06		ENSG00000174697	ENSG00000174697			6553	protein-coding gene	gene with protein product		164160	"""leptin (murine obesity homolog)"", ""leptin (obesity homolog, mouse)"""	OBS, OB		1686014, 16932309	Standard	NM_000230		Approved		uc003vml.2	P41159	OTTHUMG00000157564	ENST00000308868.4:c.379A>G	7.37:g.127894691A>G	ENSP00000312652:p.Thr127Ala					LEP_uc003vmm.2_Missense_Mutation_p.T126A	p.T127A	NM_000230	NP_000221	P41159	LEP_HUMAN			3	436	+			127					O15158|Q56A88	Missense_Mutation	SNP	ENST00000308868.4	37	c.379A>G	CCDS5800.1	.	.	.	.	.	.	.	.	.	.	A	6.858	0.527551	0.13127	.	.	ENSG00000174697	ENST00000308868	T	0.65916	-0.18	5.76	-1.04	0.10068	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.830821	0.10529	N	0.664059	T	0.49253	0.1546	M	0.62723	1.935	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.37572	-0.9700	10	0.27785	T	0.31	-8.6667	1.2657	0.02010	0.4677:0.144:0.2489:0.1394	.	127;127	A4D0Y8;P41159	.;LEP_HUMAN	A	127	ENSP00000312652:T127A	ENSP00000312652:T127A	T	+	1	0	LEP	127681927	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.013000	0.12678	0.120000	0.18254	0.533000	0.62120	ACC		0.607	LEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349174.1			11	36	0	0	0	0	11	36				
NRF1	4899	broad.mit.edu	37	7	129297406	129297406	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:129297406C>T	ENST00000393232.1	+	2	332	c.215C>T	c.(214-216)gCa>gTa	p.A72V	NRF1_ENST00000393231.3_Missense_Mutation_p.A72V|NRF1_ENST00000311967.2_Missense_Mutation_p.A72V|NRF1_ENST00000393230.2_Missense_Mutation_p.A72V|NRF1_ENST00000353868.4_Missense_Mutation_p.A72V|NRF1_ENST00000223190.4_Missense_Mutation_p.A72V|NRF1_ENST00000539636.1_5'UTR	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	72	Dimerization.				cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	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)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						GCTCATCTGGCAGCTGCAGGT	0.463																																						uc003voz.2		NA																	0				ovary(1)	1						c.(214-216)GCA>GTA		nuclear respiratory factor 1							69.0	62.0	64.0					7																	129297406		2203	4300	6503	SO:0001583	missense	4899				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:129297406C>T	L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"""alpha palindromic-binding protein"""	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.215C>T	7.37:g.129297406C>T	ENSP00000376924:p.Ala72Val					NRF1_uc003vpa.2_Missense_Mutation_p.A72V|NRF1_uc011kpa.1_5'UTR|NRF1_uc003vpb.2_Missense_Mutation_p.A72V	p.A72V	NM_005011	NP_005002	Q16656	NRF1_HUMAN			2	332	+			72			Dimerization.		A8K4C6|B4DDV6|Q15305|Q96AN2	Missense_Mutation	SNP	ENST00000393232.1	37	c.215C>T	CCDS5813.2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072885	0.76415	.	.	ENSG00000106459	ENST00000393232;ENST00000353868;ENST00000454688;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.53610	0.1807	N	0.19112	0.55	0.80722	D	1	P;P	0.48503	0.911;0.911	P;B	0.49387	0.609;0.432	T	0.54748	-0.8247	9	0.41790	T	0.15	-6.2707	18.1541	0.89686	0.0:1.0:0.0:0.0	.	72;72	Q96AN2;Q16656	.;NRF1_HUMAN	V	72	.	ENSP00000223190:A72V	A	+	2	0	NRF1	129084642	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	7.356000	0.79445	2.617000	0.88574	0.585000	0.79938	GCA		0.463	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1	NM_001040110		14	33	0	0	0	0	14	33				
EPHA1	2041	broad.mit.edu	37	7	143098584	143098584	+	Missense_Mutation	SNP	C	C	T	rs144146635		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:143098584C>T	ENST00000275815.3	-	3	351	c.265G>A	c.(265-267)Ggg>Agg	p.G89R		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	89	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GCCTCCTCCCCGCGGTAGATC	0.607																																						uc003wcz.2		NA																	0				ovary(3)|lung(1)|breast(1)	5						c.(265-267)GGG>AGG		ephrin receptor EphA1 precursor		C	ARG/GLY	0,4406		0,0,2203	137.0	131.0	133.0		265	5.0	1.0	7	dbSNP_134	133	3,8597	3.0+/-9.4	0,3,4297	yes	missense	EPHA1	NM_005232.4	125	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	89/977	143098584	3,13003	2203	4300	6503	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143098584C>T	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.265G>A	7.37:g.143098584C>T	ENSP00000275815:p.Gly89Arg						p.G89R	NM_005232	NP_005223	P21709	EPHA1_HUMAN			3	352	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	89			Extracellular (Potential).		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.265G>A	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493753	0.64186	0.0	3.49E-4	ENSG00000146904	ENST00000275815	T	0.09538	2.97	4.99	4.99	0.66335	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000012	T	0.18215	0.0437	N	0.11651	0.15	0.22762	N	0.998768	D	0.89917	1.0	D	0.75484	0.986	T	0.18650	-1.0330	10	0.87932	D	0	.	18.4741	0.90785	0.0:1.0:0.0:0.0	.	89	P21709	EPHA1_HUMAN	R	89	ENSP00000275815:G89R	ENSP00000275815:G89R	G	-	1	0	EPHA1	142808706	0.104000	0.21937	0.988000	0.46212	0.953000	0.61014	2.069000	0.41481	2.597000	0.87782	0.643000	0.83706	GGG		0.607	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			82	112	0	0	0	0	82	112				
ZNF212	7988	broad.mit.edu	37	7	148947811	148947811	+	Missense_Mutation	SNP	G	G	A	rs145118937		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:148947811G>A	ENST00000335870.2	+	3	582	c.454G>A	c.(454-456)Gag>Aag	p.E152K		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	152	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			CTGTTTCACCGAGCAGGAATG	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		19841	0.0		0.001	False		,,,				2504	0.0					uc003wfp.2		NA																	0				ovary(1)	1						c.(454-456)GAG>AAG		zinc finger protein 212							175.0	169.0	171.0					7																	148947811		2203	4300	6503	SO:0001583	missense	7988				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr7:148947811G>A	U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"""Zinc fingers, C2H2-type"", ""-"""	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.454G>A	7.37:g.148947811G>A	ENSP00000338572:p.Glu152Lys						p.E152K	NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)		3	550	+	Melanoma(164;0.15)		152			KRAB.		B2RCF4|Q13396|Q8N664	Missense_Mutation	SNP	ENST00000335870.2	37	c.454G>A	CCDS5896.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	25.1|25.1	4.605200|4.605200	0.87157|0.87157	.|.	.|.	ENSG00000170260|ENSG00000170260	ENST00000335870|ENST00000481584	T|.	0.01745|.	4.66|.	5.44|5.44	5.44|5.44	0.79542|0.79542	Krueppel-associated box (4);|.	0.000000|.	0.45361|.	D|.	0.000362|.	T|T	0.48059|0.48059	0.1479|0.1479	L|L	0.35487|0.35487	1.065|1.065	0.34332|0.34332	D|D	0.687802|0.687802	D|.	0.71674|.	0.998|.	P|.	0.60415|.	0.874|.	T|T	0.57608|0.57608	-0.7782|-0.7782	10|5	0.27785|.	T|.	0.31|.	-25.318|-25.318	10.2436|10.2436	0.43328|0.43328	0.0901:0.0:0.9099:0.0|0.0901:0.0:0.9099:0.0	.|.	152|.	Q9UDV6|.	ZN212_HUMAN|.	K|Q	152|49	ENSP00000338572:E152K|.	ENSP00000338572:E152K|.	E|R	+|+	1|2	0|0	ZNF212|ZNF212	148578744|148578744	0.993000|0.993000	0.37304|0.37304	0.955000|0.955000	0.39395|0.39395	0.979000|0.979000	0.70002|0.70002	3.000000|3.000000	0.49481|0.49481	2.558000|2.558000	0.86282|0.86282	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.498	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352710.1	NM_012256		58	75	0	0	0	0	58	75				
KCNH2	3757	broad.mit.edu	37	7	150649889	150649889	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:150649889C>T	ENST00000262186.5	-	6	1582	c.1181G>A	c.(1180-1182)cGc>cAc	p.R394H	KCNH2_ENST00000392968.2_Missense_Mutation_p.R298H|KCNH2_ENST00000330883.4_Missense_Mutation_p.R54H|KCNH2_ENST00000430723.3_Missense_Mutation_p.R394H	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	394					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	GCGGTGGATGCGCGGTGCCTG	0.647																																					GBM(137;110 1844 13671 20123 45161)	uc003wic.2		NA																	0				skin(3)|ovary(1)	4						c.(1180-1182)CGC>CAC		voltage-gated potassium channel, subfamily H,	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						117.0	95.0	102.0					7																	150649889		2203	4300	6503	SO:0001583	missense	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150649889C>T	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1181G>A	7.37:g.150649889C>T	ENSP00000262186:p.Arg394His					KCNH2_uc003wib.2_Missense_Mutation_p.R54H|KCNH2_uc011kux.1_Missense_Mutation_p.R298H|KCNH2_uc003wid.2_Missense_Mutation_p.R54H|KCNH2_uc003wie.2_Missense_Mutation_p.R394H	p.R394H	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	6	1194	-	all_neural(206;0.219)		394			Cytoplasmic (Potential).		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	37	c.1181G>A	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	C	32	5.136592	0.94517	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000350328;ENST00000430723	D;D;D;D	0.95342	-3.68;-3.68;-3.68;-3.68	4.69	4.69	0.59074	.	0.123064	0.49916	D	0.000136	D	0.97458	0.9168	M	0.88570	2.965	0.47374	D	0.999403	D;D;D;D;D	0.89917	1.0;1.0;0.973;0.997;0.996	D;D;P;D;D	0.78314	0.991;0.99;0.765;0.919;0.927	D	0.98354	1.0545	10	0.87932	D	0	.	15.1253	0.72478	0.0:1.0:0.0:0.0	.	298;394;54;394;54	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	H	54;298;394;54;394	ENSP00000328531:R54H;ENSP00000376695:R298H;ENSP00000262186:R394H;ENSP00000387657:R394H	ENSP00000262186:R394H	R	-	2	0	KCNH2	150280822	1.000000	0.71417	0.851000	0.33527	0.963000	0.63663	7.674000	0.83992	2.172000	0.68678	0.462000	0.41574	CGC		0.647	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		7	82	0	0	0	0	7	82				
NOM1	64434	broad.mit.edu	37	7	156762310	156762310	+	Silent	SNP	C	C	T	rs374634748		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:156762310C>T	ENST00000275820.3	+	11	2511	c.2496C>T	c.(2494-2496)caC>caT	p.H832H		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	832						nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CACAGGCCCACAGAAGCGCCG	0.507																																						uc003wmy.2		NA																	0					0						c.(2494-2496)CAC>CAT		nucleolar protein with MIF4G domain 1		C		0,4406		0,0,2203	126.0	132.0	130.0		2496	3.3	0.1	7		130	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NOM1	NM_138400.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		832/861	156762310	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64434				RNA metabolic process	nucleolus	protein binding	g.chr7:156762310C>T	AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.2496C>T	7.37:g.156762310C>T							p.H832H	NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	11	2511	+	Ovarian(565;0.218)	all_hematologic(28;0.0749)	832					Q96I08	Silent	SNP	ENST00000275820.3	37	c.2496C>T	CCDS34787.1																																																																																				0.507	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		33	94	0	0	0	0	33	94				
CHD7	55636	broad.mit.edu	37	8	61707620	61707620	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr8:61707620T>A	ENST00000423902.2	+	4	2651	c.2172T>A	c.(2170-2172)aaT>aaA	p.N724K	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.N724K	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	724					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GTTCTGAAAATTCAGACTTAG	0.418																																						uc003xue.2		NA																	1	Insertion - In frame(1)	p.556_871dup(1)	lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(2170-2172)AAT>AAA		chromodomain helicase DNA binding protein 7							97.0	98.0	98.0					8																	61707620		1829	4069	5898	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61707620T>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.2172T>A	8.37:g.61707620T>A	ENSP00000392028:p.Asn724Lys						p.N724K	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		4	2649	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	724					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.2172T>A	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	T	6.849	0.525947	0.13066	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	T;T	0.80909	-1.43;-1.02	5.46	4.15	0.48705	.	0.000000	0.44097	D	0.000481	T	0.58293	0.2112	N	0.08118	0	0.32301	N	0.564961	B	0.16166	0.016	B	0.14578	0.011	T	0.57734	-0.7760	10	0.15952	T	0.53	-24.9279	8.1305	0.31024	0.0:0.1466:0.0:0.8534	.	724	Q9P2D1	CHD7_HUMAN	K	724	ENSP00000392028:N724K;ENSP00000436027:N724K	ENSP00000307304:N724K	N	+	3	2	CHD7	61870174	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.764000	0.26532	2.191000	0.70037	0.533000	0.62120	AAT		0.418	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		40	89	0	0	0	0	40	89				
TERF1	7013	broad.mit.edu	37	8	73921257	73921257	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr8:73921257G>A	ENST00000276603.5	+	1	159	c.136G>A	c.(136-138)Gag>Aag	p.E46K	TERF1_ENST00000276602.6_Missense_Mutation_p.E46K	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	46	Asp/Glu-rich (acidic).				age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			GGAACTGCTCGAGTGCCAGGT	0.672																																						uc003xzd.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(136-138)GAG>AAG		telomeric repeat binding factor 1 isoform 1							15.0	17.0	17.0					8																	73921257		2193	4277	6470	SO:0001583	missense	7013				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding	g.chr8:73921257G>A	U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.136G>A	8.37:g.73921257G>A	ENSP00000276603:p.Glu46Lys					TERF1_uc003xzc.2_RNA|TERF1_uc003xze.2_Missense_Mutation_p.E46K	p.E46K	NM_017489	NP_059523	P54274	TERF1_HUMAN	Epithelial(68;0.0984)		1	161	+	Breast(64;0.218)		46			Asp/Glu-rich (acidic).		A7XP29|Q15553|Q8NHT6|Q93029	Missense_Mutation	SNP	ENST00000276603.5	37	c.136G>A	CCDS6211.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.136256	0.56936	.	.	ENSG00000147601	ENST00000276603;ENST00000276602;ENST00000518874	.	.	.	4.04	4.04	0.47022	.	1.167870	0.06130	N	0.670480	T	0.41026	0.1141	L	0.27053	0.805	0.09310	N	1	B;B	0.17268	0.014;0.021	B;B	0.11329	0.006;0.002	T	0.22417	-1.0217	9	0.52906	T	0.07	.	14.1302	0.65247	0.0:0.0:1.0:0.0	.	46;46	P54274-2;P54274	.;TERF1_HUMAN	K	46	.	ENSP00000276602:E46K	E	+	1	0	TERF1	74083811	0.036000	0.19791	0.074000	0.20217	0.086000	0.17979	1.993000	0.40747	2.544000	0.85801	0.557000	0.71058	GAG		0.672	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379093.1	NM_017489		4	49	0	0	0	0	4	49				
VPS13B	157680	broad.mit.edu	37	8	100147902	100147902	+	Nonsense_Mutation	SNP	C	C	T	rs180177354		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr8:100147902C>T	ENST00000358544.2	+	11	1615	c.1504C>T	c.(1504-1506)Cga>Tga	p.R502*	VPS13B_ENST00000395996.1_Nonsense_Mutation_p.R502*|VPS13B_ENST00000357162.2_Nonsense_Mutation_p.R502*|VPS13B_ENST00000355155.1_Nonsense_Mutation_p.R502*	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	502					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTTTGATTACCGAAGCCCAGA	0.338																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	GRCh37	CM041269	VPS13B	M		c.(1504-1506)CGA>TGA		vacuolar protein sorting 13B isoform 5							121.0	108.0	112.0					8																	100147902		2202	4300	6502	SO:0001587	stop_gained	157680				protein transport			g.chr8:100147902C>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.1504C>T	8.37:g.100147902C>T	ENSP00000351346:p.Arg502*					VPS13B_uc003yiw.2_Nonsense_Mutation_p.R502*|VPS13B_uc003yit.2_Nonsense_Mutation_p.R502*|VPS13B_uc003yiu.1_Nonsense_Mutation_p.R502*|VPS13B_uc003yix.1_5'Flank	p.R502*	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		11	1615	+	Breast(36;3.73e-07)		502					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Nonsense_Mutation	SNP	ENST00000358544.2	37	c.1504C>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	36	5.880596	0.97062	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	.	.	.	5.36	3.43	0.39272	.	0.000000	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4612	0.55733	0.5151:0.4849:0.0:0.0	.	.	.	.	X	502	.	ENSP00000347281:R502X	R	+	1	2	VPS13B	100217078	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.929000	0.40114	1.385000	0.46445	-0.152000	0.13540	CGA		0.338	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		16	37	0	0	0	0	16	37				
COL22A1	169044	broad.mit.edu	37	8	139890008	139890008	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr8:139890008G>A	ENST00000303045.6	-	3	1089	c.643C>T	c.(643-645)Cgc>Tgc	p.R215C	COL22A1_ENST00000435777.1_Missense_Mutation_p.R215C	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	215					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CAAAGACGGCGCCGCAGCTTG	0.662										HNSCC(7;0.00092)																												uc003yvd.2		NA																	0				ovary(11)|pancreas(1)|skin(1)	13						c.(643-645)CGC>TGC		collagen, type XXII, alpha 1							32.0	34.0	34.0					8																	139890008		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139890008G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.643C>T	8.37:g.139890008G>A	ENSP00000303153:p.Arg215Cys	HNSCC(7;0.00092)					p.R215C	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		3	1090	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		215					B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.643C>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694224	0.48202	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	T;T	0.78707	-1.2;-1.2	5.03	4.13	0.48395	von Willebrand factor, type A (1);	0.132185	0.31809	N	0.007032	D	0.83857	0.5345	L	0.57536	1.79	0.51233	D	0.999914	D	0.89917	1.0	D	0.72075	0.976	T	0.82709	-0.0323	9	.	.	.	.	11.4194	0.49971	0.0:0.0:0.5381:0.4619	.	215	Q8NFW1	COMA1_HUMAN	C	215	ENSP00000303153:R215C;ENSP00000387655:R215C	.	R	-	1	0	COL22A1	139959190	1.000000	0.71417	0.983000	0.44433	0.288000	0.27193	3.705000	0.54823	1.037000	0.40024	0.655000	0.94253	CGC		0.662	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		17	30	0	0	0	0	17	30				
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2	R80*(MEWO_SKIN)|R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)	17																	1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1112)|p.R80*(88)|p.?(13)|p.R80Q(2)|p.P135L(2)|p.T79fs*37(1)|p.L65fs*38(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)|p.R80?(1)|p.R80L(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM014695	CDKN2A	M	rs121913388	c.(238-240)CGA>TGA		cyclin-dependent kinase inhibitor 2A isoform 1							11.0	14.0	13.0					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971120G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.238C>T	9.37:g.21971120G>A	ENSP00000307101:p.Arg80*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P135L	p.R80*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	450	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	80		R -> P (in CMM2; loss of CDK4 binding).|R -> L (in a head and neck tumor).	ANK 3.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.238C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		16	7	0	0	0	0	16	7				
ELAVL2	1993	broad.mit.edu	37	9	23692607	23692607	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr9:23692607C>T	ENST00000397312.2	-	7	1302	c.1028G>A	c.(1027-1029)gGa>gAa	p.G343E	ELAVL2_ENST00000380110.4_Missense_Mutation_p.G373E|ELAVL2_ENST00000380117.1_Missense_Mutation_p.G343E|ELAVL2_ENST00000544538.1_Missense_Mutation_p.G343E|ELAVL2_ENST00000223951.6_Missense_Mutation_p.G330E	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	343	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TACTCTGTCTCCCAGACGGTA	0.408																																						uc003zpu.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1027-1029)GGA>GAA		ELAV (embryonic lethal, abnormal vision,							72.0	65.0	67.0					9																	23692607		2203	4300	6503	SO:0001583	missense	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23692607C>T	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.1028G>A	9.37:g.23692607C>T	ENSP00000380479:p.Gly343Glu					ELAVL2_uc003zps.2_Missense_Mutation_p.G330E|ELAVL2_uc003zpt.2_Missense_Mutation_p.G330E|ELAVL2_uc003zpv.2_Missense_Mutation_p.G343E|ELAVL2_uc003zpw.2_Missense_Mutation_p.G330E	p.G343E	NM_004432	NP_004423	Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	7	1303	-			343			RRM 3.		D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	c.1028G>A	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491902	0.64074	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	5.94	5.94	0.96194	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.31295	0.0792	N	0.17922	0.545	0.80722	D	1	D;D	0.89917	0.965;1.0	D;D	0.87578	0.919;0.998	T	0.05937	-1.0855	10	0.62326	D	0.03	.	20.369	0.98888	0.0:1.0:0.0:0.0	.	343;330	Q12926;Q12926-2	ELAV2_HUMAN;.	E	330;343;343;330;343;371	ENSP00000223951:G330E;ENSP00000380479:G343E;ENSP00000440998:G343E;ENSP00000369460:G343E	ENSP00000223951:G330E	G	-	2	0	ELAVL2	23682607	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.409000	0.80053	2.819000	0.97034	0.650000	0.86243	GGA		0.408	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		18	25	0	0	0	0	18	25				
TAF1L	138474	broad.mit.edu	37	9	32635310	32635310	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr9:32635310C>T	ENST00000242310.4	-	1	357	c.268G>A	c.(268-270)Ggc>Agc	p.G90S	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	90					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AAGGCACCGCCAGTCCCAGTC	0.488																																						uc003zrg.1		NA																	0				lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(268-270)GGC>AGC		TBP-associated factor RNA polymerase 1-like							190.0	184.0	186.0					9																	32635310		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32635310C>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.268G>A	9.37:g.32635310C>T	ENSP00000418379:p.Gly90Ser					uc003zrh.1_Intron	p.G90S	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	358	-			90					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.268G>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	4.878	0.163180	0.09287	.	.	ENSG00000122728	ENST00000242310	T	0.07114	3.22	1.04	1.04	0.20106	.	0.304159	0.34002	N	0.004357	T	0.02494	0.0076	N	0.02011	-0.69	0.09310	N	1	B	0.12013	0.005	B	0.19946	0.027	T	0.48186	-0.9057	10	0.10111	T	0.7	.	7.4859	0.27432	0.0:1.0:0.0:0.0	.	90	Q8IZX4	TAF1L_HUMAN	S	90	ENSP00000418379:G90S	ENSP00000418379:G90S	G	-	1	0	TAF1L	32625310	.	.	0.063000	0.19743	0.125000	0.20455	.	.	0.507000	0.28148	0.195000	0.17529	GGC		0.488	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			67	139	0	0	0	0	67	139				
NPR2	4882	broad.mit.edu	37	9	35799694	35799694	+	Missense_Mutation	SNP	G	G	A	rs144940095		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr9:35799694G>A	ENST00000342694.2	+	3	1208	c.953G>A	c.(952-954)cGg>cAg	p.R318Q		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	318					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ATAAGAGCCCGGGAAGACTTT	0.527																																						uc003zyd.2		NA																	0				ovary(2)|stomach(1)	3						c.(952-954)CGG>CAG		natriuretic peptide receptor B precursor	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	G	GLN/ARG	0,4406		0,0,2203	120.0	119.0	119.0		953	4.8	1.0	9	dbSNP_134	119	2,8598	2.2+/-6.3	0,2,4298	no	missense	NPR2	NM_003995.3	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	318/1048	35799694	2,13004	2203	4300	6503	SO:0001583	missense	4882				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	g.chr9:35799694G>A	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.953G>A	9.37:g.35799694G>A	ENSP00000341083:p.Arg318Gln					NPR2_uc010mlb.2_Missense_Mutation_p.R318Q	p.R318Q	NM_003995	NP_003986	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		3	953	+	all_epithelial(49;0.161)		318			Extracellular (Potential).		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	c.953G>A	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861198	0.32884	0.0	2.33E-4	ENSG00000159899	ENST00000342694	D	0.82255	-1.59	5.69	4.79	0.61399	Extracellular ligand-binding receptor (1);	0.190789	0.25909	N	0.027508	T	0.62146	0.2404	N	0.04297	-0.235	0.36094	D	0.843632	B;B	0.20988	0.041;0.05	B;B	0.20767	0.024;0.031	T	0.60712	-0.7209	10	0.17832	T	0.49	.	8.283	0.31910	0.1848:0.0:0.8152:0.0	.	318;318	P20594-2;P20594	.;ANPRB_HUMAN	Q	318	ENSP00000341083:R318Q	ENSP00000341083:R318Q	R	+	2	0	NPR2	35789694	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.198000	0.51035	1.414000	0.47017	0.655000	0.94253	CGG		0.527	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			10	87	0	0	0	0	10	87				
DAB2IP	153090	broad.mit.edu	37	9	124522454	124522454	+	Silent	SNP	C	C	T	rs140379738		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr9:124522454C>T	ENST00000408936.3	+	6	1088	c.906C>T	c.(904-906)gcC>gcT	p.A302A	DAB2IP_ENST00000309989.1_Silent_p.A178A|DAB2IP_ENST00000259371.2_Silent_p.A274A			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	302					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCTCGGTGGCCGGGCGGCAGT	0.637																																						uc004bln.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(820-822)GCC>GCT		disabled homolog 2 interacting protein isoform		C	,	0,4406		0,0,2203	58.0	55.0	56.0		822,534	-9.6	0.0	9	dbSNP_134	56	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	DAB2IP	NM_032552.2,NM_138709.1	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	274/1133,178/1066	124522454	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124522454C>T	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.906C>T	9.37:g.124522454C>T						DAB2IP_uc004blo.2_Silent_p.A178A	p.A274A	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN			6	891	+			302					A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	ENST00000408936.3	37	c.822C>T																																																																																					0.637	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		9	75	0	0	0	0	9	75				
PKN3	29941	broad.mit.edu	37	9	131476379	131476379	+	Missense_Mutation	SNP	C	C	T	rs200958296	byFrequency	TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr9:131476379C>T	ENST00000291906.4	+	10	1684	c.1291C>T	c.(1291-1293)Cgc>Tgc	p.R431C		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	431					epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GAGGCAGGAACGCATCTTCTC	0.627													C|||	2	0.000399361	0.0	0.0	5008	,	,		16466	0.001		0.0	False		,,,				2504	0.001					uc004bvw.2		NA																	0				stomach(2)|lung(2)	4						c.(1291-1293)CGC>TGC		protein kinase PKNbeta							80.0	83.0	82.0					9																	131476379		2203	4300	6503	SO:0001583	missense	29941				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity	g.chr9:131476379C>T	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.1291C>T	9.37:g.131476379C>T	ENSP00000291906:p.Arg431Cys					PKN3_uc010myh.2_Missense_Mutation_p.R431C|PKN3_uc011mbk.1_Translation_Start_Site	p.R431C	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN			10	1684	+			431					Q9UM03	Missense_Mutation	SNP	ENST00000291906.4	37	c.1291C>T	CCDS6908.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.38	1.920064	0.33908	.	.	ENSG00000160447	ENST00000291906	T	0.32023	1.47	5.16	2.18	0.27775	.	.	.	.	.	T	0.23766	0.0575	L	0.41236	1.265	0.58432	D	0.999999	B	0.13145	0.007	B	0.08055	0.003	T	0.05007	-1.0912	9	0.44086	T	0.13	.	9.7885	0.40690	0.0:0.756:0.0:0.244	.	431	Q6P5Z2	PKN3_HUMAN	C	431	ENSP00000291906:R431C	ENSP00000291906:R431C	R	+	1	0	PKN3	130516200	1.000000	0.71417	0.920000	0.36463	0.636000	0.38137	1.573000	0.36472	0.533000	0.28675	0.462000	0.41574	CGC		0.627	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		28	99	0	0	0	0	28	99				
LRRC8A	56262	broad.mit.edu	37	9	131678559	131678559	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr9:131678559G>A	ENST00000259324.5	+	4	2865	c.2342G>A	c.(2341-2343)cGc>cAc	p.R781H	LRRC8A_ENST00000492784.1_3'UTR|LRRC8A_ENST00000372599.3_Missense_Mutation_p.R781H|LRRC8A_ENST00000372600.4_Missense_Mutation_p.R781H	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	781					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R781H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CTGCTCAAGCGCAGCGGCTTG	0.672																																						uc004bwl.3		NA																	1	Substitution - Missense(1)		endometrium(1)		0						c.(2341-2343)CGC>CAC		leucine rich repeat containing 8 family, member							42.0	42.0	42.0					9																	131678559		2203	4300	6503	SO:0001583	missense	56262				pre-B cell differentiation	integral to membrane		g.chr9:131678559G>A	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.2342G>A	9.37:g.131678559G>A	ENSP00000259324:p.Arg781His					LRRC8A_uc010myp.2_Missense_Mutation_p.R781H|LRRC8A_uc010myq.2_Missense_Mutation_p.R781H	p.R781H	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN			4	2596	+			781					Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	37	c.2342G>A	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675968	0.67928	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.25250	1.81;1.81;1.81	5.03	5.03	0.67393	.	0.049540	0.85682	D	0.000000	T	0.34193	0.0889	L	0.39245	1.2	0.51233	D	0.999913	D	0.63880	0.993	P	0.52267	0.694	T	0.05954	-1.0854	10	0.52906	T	0.07	.	17.3366	0.87283	0.0:0.0:1.0:0.0	.	781	Q8IWT6	LRC8A_HUMAN	H	781	ENSP00000361682:R781H;ENSP00000361680:R781H;ENSP00000259324:R781H	ENSP00000259324:R781H	R	+	2	0	LRRC8A	130718380	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	4.304000	0.59104	2.337000	0.79520	0.313000	0.20887	CGC		0.672	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		20	38	0	0	0	0	20	38				
PHYHD1	254295	broad.mit.edu	37	9	131696086	131696086	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr9:131696086G>T	ENST00000372592.3	+	5	1151	c.218G>T	c.(217-219)aGt>aTt	p.S73I	PHYHD1_ENST00000421063.2_Missense_Mutation_p.S73I|PHYHD1_ENST00000308941.5_Missense_Mutation_p.S73I|PHYHD1_ENST00000353176.5_Missense_Mutation_p.S73I	NM_001100876.1	NP_001094346.1	Q5SRE7	PHYD1_HUMAN	phytanoyl-CoA dioxygenase domain containing 1	73							dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3)	10						TTCTTGAGCAGTGGTGACAAG	0.552											OREG0003917	type=REGULATORY REGION|Gene=AK130919|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc004bwo.2		NA																	0					0						c.(217-219)AGT>ATT		phytanoyl-CoA dioxygenase domain containing 1							147.0	147.0	147.0					9																	131696086		2203	4300	6503	SO:0001583	missense	254295						metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr9:131696086G>T	BC051300	CCDS6914.1, CCDS43885.1, CCDS43886.1	9q34.13	2010-08-13			ENSG00000175287	ENSG00000175287			23396	protein-coding gene	gene with protein product						12477932	Standard	NM_174933		Approved	MGC16638	uc004bwp.2	Q5SRE7	OTTHUMG00000020764	ENST00000372592.3:c.218G>T	9.37:g.131696086G>T	ENSP00000361673:p.Ser73Ile		OREG0003917	type=REGULATORY REGION|Gene=AK130919|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1589	PHYHD1_uc004bwn.2_Missense_Mutation_p.S73I|PHYHD1_uc004bwm.2_RNA|PHYHD1_uc004bwp.2_Missense_Mutation_p.S73I	p.S73I	NM_001100876	NP_001094346	Q5SRE7	PHYD1_HUMAN			5	1151	+			73					A6PWN9|A6PWP0|B3KT57|B4E3X8|Q5SRE9|Q5SRF0|Q7Z623|Q7Z7P9|Q96GM4	Missense_Mutation	SNP	ENST00000372592.3	37	c.218G>T	CCDS43885.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977786	0.92982	.	.	ENSG00000175287	ENST00000372592;ENST00000308941;ENST00000353176;ENST00000426694;ENST00000421063	D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71;-2.71	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.96864	0.8976	H	0.95712	3.71	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98070	1.0398	10	0.87932	D	0	-22.3732	17.336	0.87281	0.0:0.0:1.0:0.0	.	73;73;73	Q5SRE7-2;Q5SRE7;Q5SRE7-3	.;PHYD1_HUMAN;.	I	73	ENSP00000361673:S73I;ENSP00000309515:S73I;ENSP00000340945:S73I;ENSP00000412377:S73I;ENSP00000409928:S73I	ENSP00000309515:S73I	S	+	2	0	PHYHD1	130735907	1.000000	0.71417	0.968000	0.41197	0.991000	0.79684	8.545000	0.90657	2.423000	0.82170	0.561000	0.74099	AGT		0.552	PHYHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054506.2	NM_174933		64	91	1	0	5.11e-33	6.7e-33	64	91				
NOTCH1	4851	broad.mit.edu	37	9	139405168	139405168	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr9:139405168A>T	ENST00000277541.6	-	17	2752	c.2677T>A	c.(2677-2679)Tgc>Agc	p.C893S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	893	EGF-like 23; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		TGGCAGTGGCAGCGGTAGCCG	0.692			"""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.(2677-2679)TGC>AGC		notch1 preproprotein							17.0	26.0	23.0					9																	139405168		2021	4129	6150	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.chr9:139405168A>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.2677T>A	9.37:g.139405168A>T	ENSP00000277541:p.Cys893Ser	HNSCC(8;0.001)				NOTCH1_uc004cia.1_Missense_Mutation_p.C123S	p.C893S	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	17	2677	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	893			Extracellular (Potential).|EGF-like 23; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.2677T>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.340908	0.81911	.	.	ENSG00000148400	ENST00000277541	D	0.99429	-5.89	4.88	4.88	0.63580	EGF-like calcium-binding, conserved site (1);EGF-like region, conserved site (2);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99775	0.9907	H	0.99555	4.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96791	0.9582	10	0.87932	D	0	.	13.6698	0.62418	1.0:0.0:0.0:0.0	.	893	P46531	NOTC1_HUMAN	S	893	ENSP00000277541:C893S	ENSP00000277541:C893S	C	-	1	0	NOTCH1	138524989	1.000000	0.71417	1.000000	0.80357	0.496000	0.33645	9.111000	0.94308	1.828000	0.53243	0.459000	0.35465	TGC		0.692	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		13	26	0	0	0	0	13	26				
PASD1	139135	broad.mit.edu	37	X	150832808	150832808	+	Silent	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chrX:150832808C>T	ENST00000370357.4	+	11	1304	c.1059C>T	c.(1057-1059)ggC>ggT	p.G353G		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	353						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GGGCTGCTGGCGCAAGTGCTC	0.552																																						uc004fev.3		NA																	0				ovary(3)	3						c.(1057-1059)GGC>GGT		PAS domain containing 1							48.0	46.0	47.0					X																	150832808		2203	4300	6503	SO:0001819	synonymous_variant	139135					nucleus	signal transducer activity	g.chrX:150832808C>T	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.1059C>T	X.37:g.150832808C>T							p.G353G	NM_173493	NP_775764	Q8IV76	PASD1_HUMAN			11	1391	+	Acute lymphoblastic leukemia(192;6.56e-05)		353					Q3MNE0|Q69HD7|Q8N7X9	Silent	SNP	ENST00000370357.4	37	c.1059C>T	CCDS35431.1																																																																																				0.552	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		12	23	0	0	0	0	12	23				
GALNT18	374378	broad.mit.edu	37	11	11394162	11394163	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr11:11394162_11394163insT	ENST00000227756.4	-	6	1402_1403	c.991_992insA	c.(991-993)attfs	p.I331fs		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	331	Catalytic subdomain B.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										GAAGCAGCCAATGAGGGCAGGG	0.604																																						uc001mjo.2		NA																	0					0						c.(991-993)ATTfs		UDP-N-acetyl-alpha-D-galactosamine:polypeptide																																				SO:0001589	frameshift_variant	374378					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr11:11394162_11394163insT	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.992dupA	11.37:g.11394163_11394163dupT	ENSP00000227756:p.Ile331fs						p.I331fs	NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN		all cancers(16;3.67e-05)|Epithelial(150;0.000184)	6	1412_1413	-			331			Lumenal (Potential).|Catalytic subdomain B.		O95903|Q8NDY9	Frame_Shift_Ins	INS	ENST00000227756.4	37	c.991_992insA	CCDS7807.1																																																																																				0.604	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516		13	38	NA	NA	NA	NA	13	38	---	---	---	---
OR6C74	254783	broad.mit.edu	37	12	55641374	55641375	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr12:55641374_55641375delCA	ENST00000343870.4	+	1	393_394	c.303_304delCA	c.(301-306)ttcactfs	p.T102fs		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						AGCTGTTTTTCACTATTCTCTT	0.436																																						uc010spg.1		NA																	0				central_nervous_system(1)	1						c.(301-306)TTCACTfs		olfactory receptor, family 6, subfamily C,																																				SO:0001589	frameshift_variant	254783				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55641374_55641375delCA		CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"""GPCR / Class A : Olfactory receptors"""	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.303_304delCA	12.37:g.55641374_55641375delCA	ENSP00000342836:p.Thr102fs						p.F101fs	NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN			1	303_304	+			101_102			Helical; Name=3; (Potential).			Frame_Shift_Del	DEL	ENST00000343870.4	37	c.303_304delCA	CCDS31816.1																																																																																				0.436	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382312.1			48	209	NA	NA	NA	NA	48	209	---	---	---	---
PIBF1	10464	broad.mit.edu	37	13	73468075	73468076	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr13:73468075_73468076insA	ENST00000326291.6	+	11	1814_1815	c.1476_1477insA	c.(1477-1479)aaafs	p.K493fs		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	493						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AAAAATATCAGAAAAAATTGGA	0.332																																						uc001vjc.2		NA																	0				ovary(1)|breast(1)	2						c.(1474-1479)CAGAAAfs		progesterone-induced blocking factor 1																																				SO:0001589	frameshift_variant	10464					centrosome		g.chr13:73468075_73468076insA	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.1482dupA	13.37:g.73468081_73468081dupA	ENSP00000317144:p.Lys493fs					PIBF1_uc010aeo.1_RNA|PIBF1_uc001vjb.2_Frame_Shift_Ins_p.Q492fs|PIBF1_uc010aep.2_Intron	p.Q492fs	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	11	1781_1782	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	492_493					O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Frame_Shift_Ins	INS	ENST00000326291.6	37	c.1476_1477insA	CCDS31991.1																																																																																				0.332	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		9	44	NA	NA	NA	NA	9	44	---	---	---	---
CACNB1	782	broad.mit.edu	37	17	37331582	37331584	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr17:37331582_37331584delTCT	ENST00000394303.3	-	14	1866_1868	c.1659_1661delAGA	c.(1657-1662)gaagac>gac	p.E553del	RP5-906A24.2_ENST00000579256.1_RNA	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	553					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TTCCTCATAGTCTTCTTCCTCGT	0.645											OREG0024371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(5;100 366 38393 41452 45827)	uc002hrm.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(1657-1662)GAAGAC>GAC		calcium channel, voltage-dependent, beta 1	Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)																																			SO:0001651	inframe_deletion	782				axon guidance	voltage-gated calcium channel complex		g.chr17:37331582_37331584delTCT		CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"""Calcium channel subunits"""	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.1659_1661delAGA	17.37:g.37331585_37331587delTCT	ENSP00000377840:p.Glu553del		OREG0024371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	869	CACNB1_uc002hrl.1_In_Frame_Del_p.E325del	p.E553del	NM_000723	NP_000714	Q02641	CACB1_HUMAN			14	1812_1814	-			553					A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	In_Frame_Del	DEL	ENST00000394303.3	37	c.1659_1661delAGA	CCDS42311.1																																																																																				0.645	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3			73	321	NA	NA	NA	NA	73	321	---	---	---	---
SDC1	6382	broad.mit.edu	37	2	20405159	20405160	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:20405159_20405160insG	ENST00000254351.4	-	2	336_337	c.92_93insC	c.(91-93)cctfs	p.P31fs	SDC1_ENST00000403076.1_Frame_Shift_Ins_p.P31fs|SDC1_ENST00000381150.1_Frame_Shift_Ins_p.P31fs|SDC1_ENST00000482879.1_5'UTR	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	31					canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CTTGATCTTCAGGGGGCAAATT	0.55																																						uc002rdo.1		NA																	0				ovary(4)|skin(1)	5						c.(91-93)CCTfs		syndecan 1 precursor																																				SO:0001589	frameshift_variant	6382				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding	g.chr2:20405159_20405160insG	AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"""CD molecules"", ""Proteoglycans / Cell Surface : Syndecans"""	10658	protein-coding gene	gene with protein product	"""syndecan proteoglycan 1"""	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.93dupC	2.37:g.20405164_20405164dupG	ENSP00000254351:p.Pro31fs					SDC1_uc002rdp.1_Frame_Shift_Ins_p.P31fs|SDC1_uc010exv.2_Frame_Shift_Ins_p.P31fs|SDC1_uc010exw.1_RNA	p.P31fs	NM_002997	NP_002988	P18827	SDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.221)	2	391_392	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		31			Extracellular (Potential).		D6W523|Q53QV0|Q546D3|Q96HB7	Frame_Shift_Ins	INS	ENST00000254351.4	37	c.92_93insC	CCDS1697.1																																																																																				0.550	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207495.1	NM_001006946		40	104	NA	NA	NA	NA	40	104	---	---	---	---
LY75	4065	broad.mit.edu	37	2	160708798	160708799	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:160708798_160708799insT	ENST00000263636.4	-	21	2823_2824	c.2796_2797insA	c.(2794-2799)aaatatfs	p.Y933fs	LY75_ENST00000553424.1_Frame_Shift_Ins_p.Y933fs|LY75-CD302_ENST00000505052.1_Frame_Shift_Ins_p.Y933fs|LY75-CD302_ENST00000504764.1_Frame_Shift_Ins_p.Y933fs|LY75_ENST00000554112.1_Frame_Shift_Ins_p.Y933fs	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	933					endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GAAACATTATATTTTTCACAGA	0.366																																						uc002ubc.3		NA																	0					0						c.(2794-2799)AAATATfs		lymphocyte antigen 75 precursor																																				SO:0001589	frameshift_variant	4065				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	g.chr2:160708798_160708799insT	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.2797dupA	2.37:g.160708803_160708803dupT	ENSP00000263636:p.Tyr933fs					LY75_uc002ubb.3_Frame_Shift_Ins_p.K932fs|LY75_uc010fos.2_Frame_Shift_Ins_p.K932fs	p.K932fs	NM_002349	NP_002340	O60449	LY75_HUMAN		COAD - Colon adenocarcinoma(177;0.132)	21	2865_2866	-			932_933			Extracellular (Potential).		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Frame_Shift_Ins	INS	ENST00000263636.4	37	c.2796_2797insA	CCDS2211.1																																																																																				0.366	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			17	31	NA	NA	NA	NA	17	31	---	---	---	---
SLC1A3	6507	broad.mit.edu	37	5	36608588	36608591	+	Frame_Shift_Del	DEL	AGTC	AGTC	-			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr5:36608588_36608591delAGTC	ENST00000265113.4	+	2	539_542	c.63_66delAGTC	c.(61-66)ggagtcfs	p.GV21fs	SLC1A3_ENST00000506725.1_3'UTR|SLC1A3_ENST00000381918.3_Frame_Shift_Del_p.GV21fs	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	21					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.G21G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCAGCAGGGAGTCCGTAAACGCA	0.446																																						uc003jkj.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(61-66)GGAGTCfs		solute carrier family 1 (glial high affinity	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36608588_36608591delAGTC		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.63_66delAGTC	5.37:g.36608588_36608591delAGTC	ENSP00000265113:p.Gly21fs					SLC1A3_uc011cox.1_5'UTR|SLC1A3_uc010iuy.2_Frame_Shift_Del_p.G21fs	p.G21fs	NM_004172	NP_004163	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		2	539_542	+	all_lung(31;0.000245)		21_22			Cytoplasmic (Potential).		B2R5T3|Q4JCQ8	Frame_Shift_Del	DEL	ENST00000265113.4	37	c.63_66delAGTC	CCDS3919.1																																																																																				0.446	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		48	100	NA	NA	NA	NA	48	100	---	---	---	---
RAET1E	135250	broad.mit.edu	37	6	150209677	150209677	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr6:150209677delT	ENST00000357183.4	-	4	881	c.749delA	c.(748-750)aatfs	p.N250fs	RAET1E-AS1_ENST00000446954.2_RNA|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E-AS1_ENST00000605899.1_RNA|RAET1E_ENST00000532335.1_Intron|RAET1E_ENST00000367363.3_Frame_Shift_Del_p.N214fs	NM_139165.2	NP_631904.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	250					antigen processing and presentation (GO:0019882)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CCACTCACCATTTTGCCACCA	0.507																																						uc003qnl.1		NA																	0					0						c.(748-750)AATfs		retinoic acid early transcript 1E precursor							118.0	104.0	109.0					6																	150209677		2203	4300	6503	SO:0001589	frameshift_variant	135250				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding	g.chr6:150209677delT	AF359243	CCDS5221.1, CCDS59042.1, CCDS59043.1, CCDS59044.1	6q24.3	2011-02-09			ENSG00000164520	ENSG00000164520			16793	protein-coding gene	gene with protein product		609243				11827464	Standard	NM_139165		Approved	LETAL, bA350J20.7, ULBP4	uc003qnl.1	Q8TD07	OTTHUMG00000015796	ENST00000357183.4:c.749delA	6.37:g.150209677delT	ENSP00000349709:p.Asn250fs					uc003qni.1_Intron|RAET1E_uc003qnj.2_Intron|RAET1E_uc003qnk.1_Frame_Shift_Del_p.N214fs|RAET1E_uc010kih.1_RNA	p.N250fs	NM_139165	NP_631904	Q8TD07	N2DL4_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)	4	809	-		Ovarian(120;0.0907)	250			Cytoplasmic (Potential).		A6YF59|Q5VYB7|Q5VYB8|Q8TEZ2|Q96L41	Frame_Shift_Del	DEL	ENST00000357183.4	37	c.749delA	CCDS5221.1																																																																																				0.507	RAET1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042659.1	NM_139165		40	60	NA	NA	NA	NA	40	60	---	---	---	---
TYW1	55253	broad.mit.edu	37	7	66703464	66703465	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:66703464_66703465insG	ENST00000359626.5	+	16	2311_2312	c.2147_2148insG	c.(2146-2151)aaggacfs	p.D717fs		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	717					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				TTTGATCCCAAGGACACAAGAC	0.421																																						uc003tvn.2		NA																	0				skin(1)	1						c.(2146-2148)AAGfs		radical S-adenosyl methionine and flavodoxin																																				SO:0001589	frameshift_variant	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66703464_66703465insG	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.2149dupG	7.37:g.66703466_66703466dupG	ENSP00000352645:p.Asp717fs					TYW1_uc010lai.2_RNA|TYW1_uc011kef.1_Frame_Shift_Ins_p.K330fs|PMS2L4_uc003tvo.2_Intron	p.K716fs	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN			16	2296_2297	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	716					Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Frame_Shift_Ins	INS	ENST00000359626.5	37	c.2147_2148insG	CCDS5538.1																																																																																				0.421	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		12	39	NA	NA	NA	NA	12	39	---	---	---	---
SLC26A7	115111	broad.mit.edu	37	8	92365190	92365191	+	Frame_Shift_Ins	INS	-	-	A	rs562708766	byFrequency	TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr8:92365190_92365191insA	ENST00000276609.3	+	11	1519_1520	c.1280_1281insA	c.(1279-1284)ttaaaafs	p.LK427fs	SLC26A7_ENST00000523719.1_Frame_Shift_Ins_p.LK427fs|SLC26A7_ENST00000309536.2_Frame_Shift_Ins_p.LK427fs|SLC26A7_ENST00000520249.1_3'UTR	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TTCCGAGATTTAAAAAAATATT	0.327																																						uc003yex.2		NA																	0				ovary(2)	2						c.(1279-1281)TTAfs		solute carrier family 26, member 7 isoform a																																				SO:0001589	frameshift_variant	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92365190_92365191insA	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1287dupA	8.37:g.92365197_92365197dupA	ENSP00000276609:p.Leu427fs					SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Frame_Shift_Ins_p.L427fs|SLC26A7_uc003yfa.2_Frame_Shift_Ins_p.L427fs	p.L427fs	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		12	1558_1559	+			427			Extracellular (Potential).			Frame_Shift_Ins	INS	ENST00000276609.3	37	c.1280_1281insA	CCDS6254.1																																																																																				0.327	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			46	95	NA	NA	NA	NA	46	95	---	---	---	---
