#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	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RGPD3	653489	broad.mit.edu	37	2	107049631	107049631	+	Silent	SNP	C	C	T			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr2:107049631C>T	ENST00000409886.3	-	16	2403	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A	RGPD3_ENST00000304514.7_Silent_p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	772					protein targeting to Golgi (GO:0000042)			p.A772A(4)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTCTGAATCCGCATTTCGCA	0.373																																						ENST00000409886.3																			4	Substitution - coding silent(4)	p.A772A(4)	kidney(2)|endometrium(2)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2314-2316)gcG>gcA		RANBP2-like and GRIP domain containing 3							81.0	68.0	72.0					2																	107049631		692	1590	2282	SO:0001819	synonymous_variant	653489				intracellular transport		binding	g.chr2:107049631C>T		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.2316G>A	2.37:g.107049631C>T						RGPD3_ENST00000304514.7_Silent_p.A772A	p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2403	-			772					B8ZZM4	Silent	SNP	ENST00000409886.3	37	c.2316G>A	CCDS46379.1																																																																																				0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		4	208	0	0	0	1	0	4	208				
SCHIP1	29970	broad.mit.edu	37	3	159614540	159614540	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr3:159614540G>A	ENST00000445224.2	+	7	1036	c.712G>A	c.(712-714)Gca>Aca	p.A238T	SCHIP1_ENST00000482804.1_Missense_Mutation_p.A254T|IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.A249T|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.A530T|IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.A557T|IQCJ-SCHIP1_ENST00000337808.6_Missense_Mutation_p.A481T|IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.A468T	NM_001197109.1	NP_001184038.1	Q9P0W5	SCHI1_HUMAN	schwannomin interacting protein 1	481						cytoplasm (GO:0005737)	identical protein binding (GO:0042802)			breast(1)|central_nervous_system(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			GAAGCACATGGCAGAGAAAAT	0.363																																						ENST00000337808.6																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						c.(1441-1443)Gca>Aca									73.0	76.0	75.0					3																	159614540		2203	4300	6503	SO:0001583	missense	0					cytoplasm	identical protein binding|protein binding	g.chr3:159614540G>A	AF070614	CCDS3186.1, CCDS56292.1, CCDS56293.1, CCDS56294.1	3q25.32-q25.33	2013-09-23	2001-11-29		ENSG00000151967	ENSG00000151967			15678	protein-coding gene	gene with protein product	"""schwannomin interacting protein 1 variant 2"", ""schwannomin interacting protein 1 variant 1"""		"""schwannomin-interacting protein 1"""			10669747, 8619474, 17045569	Standard	NM_014575		Approved	SCHIP-1		Q9P0W5		ENST00000445224.2:c.712G>A	3.37:g.159614540G>A	ENSP00000404860:p.Ala238Thr					IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.A530T|SCHIP1_ENST00000482804.1_Missense_Mutation_p.A254T|IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.A468T|IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.A557T|IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.A249T|SCHIP1_ENST00000445224.2_Missense_Mutation_p.A238T	p.A481T	NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1	Q9P0W5	SCHI1_HUMAN			8	2018	+			481		A -> V (in dbSNP:rs17850021).			B3KRM0|O75543|Q00P30|Q00P31|Q7Z3Y3|Q8IY83|Q9P0W3|Q9P0W4	Missense_Mutation	SNP	ENST00000445224.2	37	c.1441G>A	CCDS56294.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.43|18.43	3.621908|3.621908	0.66787|0.66787	.|.	.|.	ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000151967;ENSG00000151967|ENSG00000250588	ENST00000476809;ENST00000485419;ENST00000337808;ENST00000412423;ENST00000527095;ENST00000445224;ENST00000482804|ENST00000473061	T;T;T;T;T;T;T|.	0.46819|.	0.86;0.86;0.86;0.86;0.86;0.86;0.86|.	5.81|5.81	4.93|4.93	0.64822|0.64822	.|.	0.229630|.	0.44902|.	D|.	0.000420|.	T|T	0.51363|0.51363	0.1670|0.1670	N|N	0.22421|0.22421	0.69|0.69	0.47441|0.47441	D|D	0.999428|0.999428	P;B;D;D;D|.	0.58970|.	0.611;0.03;0.98;0.984;0.98|.	B;B;P;P;P|.	0.59012|.	0.321;0.031;0.766;0.85;0.766|.	T|T	0.47032|0.47032	-0.9148|-0.9148	10|5	0.72032|.	D|.	0.01|.	.|.	14.6014|14.6014	0.68443|0.68443	0.0:0.0:0.8539:0.1461|0.0:0.0:0.8539:0.1461	.|.	254;238;468;481;557|.	C9JWG6;Q9P0W5-4;Q9P0W5-2;Q9P0W5;Q9P0W5-5|.	.;.;.;SCHI1_HUMAN;.|.	T|D	530;557;481;468;249;238;254|93	ENSP00000418692:A530T;ENSP00000420182:A557T;ENSP00000337239:A481T;ENSP00000400942:A468T;ENSP00000436076:A249T;ENSP00000404860:A238T;ENSP00000419230:A254T|.	ENSP00000337239:A481T|.	A|G	+|+	1|2	0|0	SCHIP1;IQCJ-SCHIP1|IQCJ-SCHIP1	161097234|161097234	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.296000|9.296000	0.96104|0.96104	1.432000|1.432000	0.47375|0.47375	-0.181000|-0.181000	0.13052|0.13052	GCA|GGC		0.363	SCHIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352560.1	NM_014575		3	18	0	0	0	1	0	3	18				
ST18	9705	broad.mit.edu	37	8	53045843	53045843	+	Silent	SNP	G	G	A	rs369209561		TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr8:53045843G>A	ENST00000276480.7	-	20	3002	c.2319C>T	c.(2317-2319)tgC>tgT	p.C773C		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	773					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CCGAGCCATCGCAGCCTGGGG	0.522																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(2317-2319)tgC>tgT		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)		G		0,4406		0,0,2203	82.0	76.0	78.0		2319	-10.7	0.3	8		78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ST18	NM_014682.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		773/1048	53045843	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53045843G>A	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2319C>T	8.37:g.53045843G>A							p.C773C	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			20	3002	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	773					Q17RY1	Silent	SNP	ENST00000276480.7	37	c.2319C>T	CCDS6149.1																																																																																				0.522	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			12	29	0	0	0	1	0	12	29				
LOC220729	220729	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	byFrequency	TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488													C|||	539	0.107628	0.0083	0.0692	5008	,	,		20710	0.1776		0.1074	False		,,,				2504	0.1973					ENST00000418868.1																			0																																																			0							g.chr3:197348668C>G																													3.37:g.197348668C>G								NR_003266.2						0	591	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.488	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	100	0	0	0	1	0	4	100				
DDN	23109	broad.mit.edu	37	12	49392347	49392347	+	Silent	SNP	C	C	T			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr12:49392347C>T	ENST00000421952.2	-	2	333	c.312G>A	c.(310-312)gaG>gaA	p.E104E	RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	104						cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GAGCTCGGACCTCGGCCAGGG	0.741																																						ENST00000421952.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						c.(310-312)gaG>gaA		dendrin							9.0	11.0	10.0					12																	49392347		2039	3905	5944	SO:0001819	synonymous_variant	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49392347C>T	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.312G>A	12.37:g.49392347C>T						RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA	p.E104E	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN			2	333	-			104						Silent	SNP	ENST00000421952.2	37	c.312G>A	CCDS31791.2																																																																																				0.741	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			12	18	0	0	0	1	0	12	18				
FRG1B	284802	broad.mit.edu	37	20	29628278	29628278	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr20:29628278G>A	ENST00000278882.3	+	6	660	c.280G>A	c.(280-282)Gca>Aca	p.A94T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	94										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGCAATGAAGCAGGGGACAT	0.373																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(280-282)Gca>Aca																																						SO:0001583	missense	0							g.chr20:29628278G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.280G>A	20.37:g.29628278G>A	ENSP00000278882:p.Ala94Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T	p.A94T							6	660	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.280G>A		.	.	.	.	.	.	.	.	.	.	g	9.994	1.231660	0.22626	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44083	0.93	2.08	2.08	0.27032	Actin cross-linking (1);	0.286587	0.39083	N	0.001478	T	0.22898	0.0553	.	.	.	0.21290	N	0.99973	B;B	0.12630	0.0;0.006	B;B	0.12156	0.002;0.007	T	0.15407	-1.0438	9	0.16420	T	0.52	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	99;94	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	94;99;94	ENSP00000408863:A99T	ENSP00000278882:A94T	A	+	1	0	FRG1B	28241939	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.196000	0.58407	1.475000	0.48197	0.423000	0.28283	GCA		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	114	0	0	0	1	0	4	114				
HLA-DQB2	3120	broad.mit.edu	37	6	32725596	32725596	+	Silent	SNP	C	C	G	rs34988824	byFrequency	TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr6:32725596C>G	ENST00000437316.2	-	4	774	c.711G>C	c.(709-711)ctG>ctC	p.L237L	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000435145.2_Silent_p.L237L			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	241					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CGAGGAAGATCAGCCCCAGCA	0.562																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(709-711)ctG>ctC		major histocompatibility complex, class II, DQ beta 2																																				SO:0001819	synonymous_variant	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32725596C>G	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.711G>C	6.37:g.32725596C>G						HLA-DQB2_ENST00000437316.2_Silent_p.L237L|HLA-DQB2_ENST00000411527.1_Intron	p.L237L			Q5SR06	Q5SR06_HUMAN			4	772	-			216					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Silent	SNP	ENST00000437316.2	37	c.711G>C																																																																																					0.562	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			3	13	0	0	0	1	0	3	13				
BMP2K	55589	broad.mit.edu	37	4	79792085	79792085	+	Missense_Mutation	SNP	G	G	C	rs376418550	byFrequency	TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr4:79792085G>C	ENST00000335016.5	+	11	1546	c.1380G>C	c.(1378-1380)caG>caC	p.Q460H	BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	460	Gln/His-rich.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)	p.Q460H(3)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ATCCTCACcagcagcagcagc	0.577																																						ENST00000335016.5																			3	Substitution - Missense(3)	p.Q460H(3)	endometrium(2)|prostate(1)	NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1378-1380)caG>caC		BMP2 inducible kinase							40.0	45.0	44.0					4																	79792085		2203	4300	6503	SO:0001583	missense	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79792085G>C	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1380G>C	4.37:g.79792085G>C	ENSP00000334836:p.Gln460His					BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			11	1546	+			460			Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	c.1380G>C	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.089|8.089	0.774118|0.774118	0.16051|0.16051	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502613|ENST00000502871;ENST00000335016;ENST00000264889	.|T;T	.|0.74002	.|0.79;-0.8	5.12|5.12	2.26|2.26	0.28386|0.28386	.|.	.|1.238260	.|0.06146	.|N	.|0.673324	T|T	0.57504|0.57504	0.2058|0.2058	N|N	0.15975|0.15975	0.35|0.35	0.30181|0.30181	N|N	0.800383|0.800383	.|B;B	.|0.06786	.|0.001;0.0	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.51803|0.51803	-0.8659|-0.8659	5|10	.|0.42905	.|T	.|0.14	0.0809|0.0809	5.9141|5.9141	0.19045|0.19045	0.0722:0.2493:0.5501:0.1284|0.0722:0.2493:0.5501:0.1284	.|.	.|460;460	.|Q9NSY1;Q4W5H2	.|BMP2K_HUMAN;.	P|H	153|460;460;474	.|ENSP00000421768:Q460H;ENSP00000334836:Q460H	.|ENSP00000264889:Q474H	A|Q	+|+	1|3	0|2	BMP2K|BMP2K	80011109|80011109	0.996000|0.996000	0.38824|0.38824	0.995000|0.995000	0.50966|0.50966	0.181000|0.181000	0.23173|0.23173	0.092000|0.092000	0.15066|0.15066	0.524000|0.524000	0.28502|0.28502	0.460000|0.460000	0.39030|0.39030	GCA|CAG		0.577	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		4	55	0	0	0	1	0	4	55				
STAT5A	6776	broad.mit.edu	37	17	40447745	40447745	+	Silent	SNP	C	C	T			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr17:40447745C>T	ENST00000345506.4	+	6	1126	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L	STAT5A_ENST00000590949.1_Silent_p.L162L|STAT5A_ENST00000546010.2_Silent_p.L132L|STAT5A_ENST00000452307.2_Silent_p.L162L|STAT5A_ENST00000588868.1_Silent_p.L162L	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	162					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		AGAGAATGAGCTGAAGAAACT	0.567																																						ENST00000345506.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(484-486)Ctg>Ttg		signal transducer and activator of transcription 5A							96.0	70.0	79.0					17																	40447745		2203	4300	6503	SO:0001819	synonymous_variant	6776				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr17:40447745C>T	U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"""SH2 domain containing"""	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.484C>T	17.37:g.40447745C>T						STAT5A_ENST00000546010.2_Silent_p.L132L|STAT5A_ENST00000452307.2_Silent_p.L162L|STAT5A_ENST00000590949.1_Silent_p.L162L|STAT5A_ENST00000588868.1_Silent_p.L162L	p.L162L	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	6	1126	+		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)	162					Q1KLZ6	Silent	SNP	ENST00000345506.4	37	c.484C>T	CCDS11424.1																																																																																				0.567	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319804.1	NM_003152		6	14	0	0	0	1	0	6	14				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	71	0	0	0	1	0	4	71				
SCAF11	9169	broad.mit.edu	37	12	46321348	46321348	+	Silent	SNP	G	G	A			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr12:46321348G>A	ENST00000369367.3	-	11	2369	c.2136C>T	c.(2134-2136)gaC>gaT	p.D712D	SCAF11_ENST00000549162.1_Silent_p.D520D|SCAF11_ENST00000419565.2_Silent_p.D712D|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000465950.1_Silent_p.D397D	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	712					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TTTCATTGTTGTCCTCACTAA	0.353																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(1189-1191)gaC>gaT		SR-related CTD-associated factor 11							164.0	161.0	162.0					12																	46321348		2203	4300	6503	SO:0001819	synonymous_variant	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46321348G>A	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2136C>T	12.37:g.46321348G>A						SCAF11_ENST00000419565.2_Silent_p.D712D|SCAF11_ENST00000549162.1_Silent_p.D520D|SCAF11_ENST00000369367.3_Silent_p.D712D	p.D397D			Q99590	SCAFB_HUMAN			1	2400	-			712					A6NEU9|A6NLW5|Q8IW59	Silent	SNP	ENST00000369367.3	37	c.1191C>T	CCDS8748.2																																																																																				0.353	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		11	147	0	0	0	1	0	11	147				
MEN1	4221	broad.mit.edu	37	11	64575521	64575521	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr11:64575521G>A	ENST00000337652.1	-	3	1014	c.511C>T	c.(511-513)Cag>Tag	p.Q171*	MEN1_ENST00000394376.1_Nonsense_Mutation_p.Q171*|MEN1_ENST00000377316.2_Nonsense_Mutation_p.Q166*|MEN1_ENST00000478548.1_5'Flank|MEN1_ENST00000315422.4_Nonsense_Mutation_p.Q166*|MEN1_ENST00000312049.6_Nonsense_Mutation_p.Q166*|MEN1_ENST00000377321.1_Nonsense_Mutation_p.Q166*|MEN1_ENST00000377313.1_Nonsense_Mutation_p.Q171*|MEN1_ENST00000377326.3_Nonsense_Mutation_p.Q166*|MEN1_ENST00000443283.1_Nonsense_Mutation_p.Q171*|MEN1_ENST00000394374.2_Nonsense_Mutation_p.Q171*	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	171			Missing (in MEN1). {ECO:0000269|PubMed:9747036}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CCCAGGGCCTGGCAGGCCCCA	0.602			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"""D, Mis, N, F, S"""	multiple endocrine neoplasia type 1 gene			E		"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""	"""parathyroid tumors, Pancreatic neuroendocrine tumors"""		0				NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337	GRCh37	CM983963	MEN1	M		c.(511-513)Cag>Tag		multiple endocrine neoplasia I							38.0	39.0	38.0					11																	64575521		2201	4297	6498	SO:0001587	stop_gained	0	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64575521G>A	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.511C>T	11.37:g.64575521G>A	ENSP00000337088:p.Gln171*					MEN1_ENST00000394376.1_Nonsense_Mutation_p.Q171*|MEN1_ENST00000377321.1_Nonsense_Mutation_p.Q166*|MEN1_ENST00000377313.1_Nonsense_Mutation_p.Q171*|MEN1_ENST00000377326.3_Nonsense_Mutation_p.Q166*|MEN1_ENST00000394374.2_Nonsense_Mutation_p.Q171*|MEN1_ENST00000312049.6_Nonsense_Mutation_p.Q166*|MEN1_ENST00000443283.1_Nonsense_Mutation_p.Q171*|MEN1_ENST00000377316.2_Nonsense_Mutation_p.Q166*|MEN1_ENST00000315422.4_Nonsense_Mutation_p.Q166*	p.Q171*	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN			3	1014	-			171		Missing (in MEN1).			A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Nonsense_Mutation	SNP	ENST00000337652.1	37	c.511C>T	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	G	36	5.718322	0.96839	.	.	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873;ENST00000450708;ENST00000413626	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-31.2802	15.7433	0.77920	0.0:0.0:1.0:0.0	.	.	.	.	X	166;166;166;166;166;171;171;171;171;171;166;166;166	.	ENSP00000308975:Q166X	Q	-	1	0	MEN1	64332097	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.690000	0.91272	2.386000	0.81285	0.462000	0.41574	CAG		0.602	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			7	10	0	0	0	1	0	7	10				
NYNRIN	57523	broad.mit.edu	37	14	24886268	24886268	+	Silent	SNP	C	C	T			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr14:24886268C>T	ENST00000382554.3	+	9	5631	c.5313C>T	c.(5311-5313)ccC>ccT	p.P1771P		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1771	Integrase catalytic. {ECO:0000255|PROSITE-ProRule:PRU00457}.				DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TCACGGAGCCCCTGTGGTGGG	0.632																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(5311-5313)ccC>ccT		NYN domain and retroviral integrase containing							43.0	47.0	46.0					14																	24886268		2052	4192	6244	SO:0001819	synonymous_variant	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24886268C>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.5313C>T	14.37:g.24886268C>T							p.P1771P	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			9	5631	+			1771			Integrase catalytic.		Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	c.5313C>T	CCDS45090.1																																																																																				0.632	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			18	35	0	0	0	1	0	18	35				
CPSF3L	54973	broad.mit.edu	37	1	1247284	1247284	+	Silent	SNP	G	G	A			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr1:1247284G>A	ENST00000435064.1	-	17	1840	c.1758C>T	c.(1756-1758)ttC>ttT	p.F586F	CPSF3L_ENST00000411962.1_Silent_p.F488F|CPSF3L_ENST00000540437.1_Silent_p.F592F|CPSF3L_ENST00000545578.1_Silent_p.F557F|CPSF3L_ENST00000421495.2_Silent_p.F328F|CPSF3L_ENST00000419704.1_Silent_p.F485F|CPSF3L_ENST00000450926.2_Silent_p.F564F|CPSF3L_ENST00000462432.1_5'UTR	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	586					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		GAGATGTGAGGAAGCTCCCCA	0.642																																						ENST00000540437.1																			0				endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13						c.(1774-1776)ttC>ttT		cleavage and polyadenylation specific factor 3-like							35.0	40.0	38.0					1																	1247284		2196	4296	6492	SO:0001819	synonymous_variant	54973					Golgi apparatus|nucleus	hydrolase activity	g.chr1:1247284G>A	AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"""integrator complex subunit 11"""	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.1758C>T	1.37:g.1247284G>A						CPSF3L_ENST00000545578.1_Silent_p.F557F|CPSF3L_ENST00000421495.2_Silent_p.F328F|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000411962.1_Silent_p.F488F|CPSF3L_ENST00000450926.2_Silent_p.F564F|CPSF3L_ENST00000435064.1_Silent_p.F586F|CPSF3L_ENST00000419704.1_Silent_p.F485F	p.F592F	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)	19	2231	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	586					A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Silent	SNP	ENST00000435064.1	37	c.1776C>T	CCDS21.1																																																																																				0.642	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	NM_017871		7	30	0	0	0	1	0	7	30				
NBPF15	284565	broad.mit.edu	37	1	148594439	148594439	+	Silent	SNP	A	A	G			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr1:148594439A>G	ENST00000369187.3	+	19	2301	c.1812A>G	c.(1810-1812)ttA>ttG	p.L604L	NBPF15_ENST00000442702.2_Silent_p.L604L	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	604	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					CTGAAGTCTTACAGGACTCAC	0.463																																						ENST00000442702.2																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(1810-1812)ttA>ttG		neuroblastoma breakpoint family, member 15																																				SO:0001819	synonymous_variant	284565					cytoplasm		g.chr1:148594439A>G	BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"""neuroblastoma breakpoint family"""	28791	protein-coding gene	gene with protein product		610414, 614005	"""neuroblastoma breakpoint family, member 16"""	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.1812A>G	1.37:g.148594439A>G						NBPF15_ENST00000369187.3_Silent_p.L604L	p.L604L	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN			21	2879	+	all_hematologic(923;0.032)		604			NBPF 6.		Q3BBV9|Q8IX77	Silent	SNP	ENST00000369187.3	37	c.1812A>G	CCDS932.1																																																																																				0.463	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638		5	172	0	0	0	1	0	5	172				
LRRK2	120892	broad.mit.edu	37	12	40745381	40745381	+	Missense_Mutation	SNP	C	C	T	rs111691891		TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr12:40745381C>T	ENST00000298910.7	+	44	6480	c.6422C>T	c.(6421-6423)aCg>aTg	p.T2141M		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2141			T -> M (in PARK8). {ECO:0000269|PubMed:18213618}.		activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.T2141M(1)|p.T2148M(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTCTGTCTGACGAGACGCATT	0.388																																						ENST00000298910.7																			2	Substitution - Missense(2)	p.T2141M(1)|p.T2148M(1)	stomach(2)	NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	GRCh37	CM081687	LRRK2	M	rs111691891	c.(6421-6423)aCg>aTg		leucine-rich repeat kinase 2							61.0	60.0	60.0					12																	40745381		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40745381C>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.6422C>T	12.37:g.40745381C>T	ENSP00000298910:p.Thr2141Met						p.T2141M	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			44	6480	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	2141		T -> M (in PARK8).			A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.6422C>T	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	0.119	-1.128345	0.01770	.	.	ENSG00000188906	ENST00000298910	T	0.70631	-0.5	6.06	2.37	0.29283	.	0.067067	0.85682	N	0.000000	T	0.32010	0.0815	N	0.00230	-1.795	0.24560	N	0.993976	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.30822	-0.9965	10	0.17832	T	0.49	.	12.4086	0.55453	0.0:0.1252:0.0:0.8748	.	2141;2141	Q17RV3;Q5S007	.;LRRK2_HUMAN	M	2141	ENSP00000298910:T2141M	ENSP00000298910:T2141M	T	+	2	0	LRRK2	39031648	1.000000	0.71417	0.998000	0.56505	0.503000	0.33858	3.171000	0.50824	0.183000	0.20059	-1.119000	0.02030	ACG		0.388	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		9	24	0	0	0	1	0	9	24				
OR12D3	81797	broad.mit.edu	37	6	29342445	29342445	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr6:29342445C>T	ENST00000396806.3	-	1	623	c.620G>A	c.(619-621)gGa>gAa	p.G207E	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						AAAGAAAGCTCCCATGGATAT	0.448																																						ENST00000396806.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						c.(619-621)gGa>gAa		olfactory receptor, family 12, subfamily D, member 3							77.0	82.0	80.0					6																	29342445		1511	2709	4220	SO:0001583	missense	81797				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29342445C>T		CCDS4658.1	6p22.1	2013-09-24			ENSG00000112462	ENSG00000112462		"""GPCR / Class A : Olfactory receptors"""	13963	protein-coding gene	gene with protein product							Standard	NM_030959		Approved	hs6M1-27	uc003nme.3	Q9UGF7	OTTHUMG00000031051	ENST00000396806.3:c.620G>A	6.37:g.29342445C>T	ENSP00000380023:p.Gly207Glu					OR5V1_ENST00000377154.1_Intron	p.G207E	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN			1	623	-			207					A2BDZ1|Q5SQI8|Q6IF23	Missense_Mutation	SNP	ENST00000396806.3	37	c.620G>A	CCDS4658.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.314392	0.23908	.	.	ENSG00000112462	ENST00000377143;ENST00000396806	T	0.37752	1.18	4.19	0.931	0.19460	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.41396	0.1157	M	0.90425	3.115	0.09310	N	1	D	0.53151	0.958	P	0.58266	0.836	T	0.33059	-0.9883	9	0.30078	T	0.28	0.2237	9.0477	0.36356	0.5321:0.3493:0.1186:0.0	.	207	Q9UGF7	O12D3_HUMAN	E	207	ENSP00000380023:G207E	ENSP00000366348:G207E	G	-	2	0	OR12D3	29450424	0.000000	0.05858	0.000000	0.03702	0.252000	0.25951	-0.917000	0.04025	-0.055000	0.13244	0.205000	0.17691	GGA		0.448	OR12D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076056.3			17	60	0	0	0	1	0	17	60				
KCNJ9	3765	broad.mit.edu	37	1	160054053	160054053	+	Missense_Mutation	SNP	T	T	A			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr1:160054053T>A	ENST00000368088.3	+	2	475	c.233T>A	c.(232-234)aTc>aAc	p.I78N		NM_004983.2	NP_004974.2	Q92806	KCNJ9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	78					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTCGGCGCCATCTGGTGGCTG	0.662																																						ENST00000368088.3																			0				biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16						c.(232-234)aTc>aAc		potassium inwardly-rectifying channel, subfamily J, member 9							49.0	39.0	43.0					1																	160054053		2203	4300	6503	SO:0001583	missense	3765				synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr1:160054053T>A	U52152	CCDS1194.1	1q23.2	2011-07-05			ENSG00000162728	ENSG00000162728		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6270	protein-coding gene	gene with protein product		600932				8575783, 16382105	Standard	NM_004983		Approved	Kir3.3, GIRK3	uc001fuy.1	Q92806	OTTHUMG00000024072	ENST00000368088.3:c.233T>A	1.37:g.160054053T>A	ENSP00000357067:p.Ile78Asn						p.I78N	NM_004983.2	NP_004974.2	Q92806	IRK9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	475	+	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		78					Q5JW75	Missense_Mutation	SNP	ENST00000368088.3	37	c.233T>A	CCDS1194.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.461522	0.84317	.	.	ENSG00000162728	ENST00000368088	D	0.94862	-3.54	4.71	4.71	0.59529	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.96024	0.8705	M	0.91300	3.195	0.58432	D	0.999998	P	0.48162	0.906	P	0.52031	0.688	D	0.96677	0.9501	10	0.87932	D	0	.	13.17	0.59593	0.0:0.0:0.0:1.0	.	78	Q92806	IRK9_HUMAN	N	78	ENSP00000357067:I78N	ENSP00000357067:I78N	I	+	2	0	KCNJ9	158320677	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.895000	0.87343	1.747000	0.51819	0.352000	0.21897	ATC		0.662	KCNJ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060628.1	NM_004983		9	18	0	0	0	1	0	9	18				
LRPPRC	10128	broad.mit.edu	37	2	44145498	44145498	+	Missense_Mutation	SNP	T	T	C			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr2:44145498T>C	ENST00000260665.7	-	28	2993	c.2936A>G	c.(2935-2937)aAt>aGt	p.N979S		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	979					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTGGATTTTATTCCAGACTGC	0.338																																						ENST00000260665.7																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41						c.(2935-2937)aAt>aGt		leucine-rich pentatricopeptide repeat containing							76.0	81.0	79.0					2																	44145498		2203	4300	6503	SO:0001583	missense	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44145498T>C	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.2936A>G	2.37:g.44145498T>C	ENSP00000260665:p.Asn979Ser						p.N979S	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN			28	2993	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	979					A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	c.2936A>G	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	T	14.47	2.544096	0.45280	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.12255	2.7	6.17	2.23	0.28157	Tetratricopeptide-like helical (1);	0.224693	0.43919	D	0.000520	T	0.12603	0.0306	L	0.60455	1.87	0.80722	D	1	B;B	0.27117	0.168;0.024	B;B	0.29785	0.107;0.009	T	0.06844	-1.0804	10	0.10111	T	0.7	-60.0587	9.4284	0.38595	0.0:0.0745:0.3823:0.5433	.	879;979	F5H4J6;P42704	.;LPPRC_HUMAN	S	879;979	ENSP00000260665:N979S	ENSP00000260665:N979S	N	-	2	0	LRPPRC	43999002	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.904000	0.48719	0.546000	0.28920	0.533000	0.62120	AAT		0.338	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		6	20	0	0	0	1	0	6	20				
FRY	10129	broad.mit.edu	37	13	32802773	32802773	+	Missense_Mutation	SNP	T	T	C			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr13:32802773T>C	ENST00000380250.3	+	40	5883	c.5387T>C	c.(5386-5388)aTt>aCt	p.I1796T		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1796						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)		AACAAGCTCATTGAGTTTCTC	0.493																																						ENST00000380250.3																			0				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						c.(5386-5388)aTt>aCt		furry homolog (Drosophila)							101.0	103.0	102.0					13																	32802773		1990	4165	6155	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32802773T>C	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.5387T>C	13.37:g.32802773T>C	ENSP00000369600:p.Ile1796Thr						p.I1796T	NM_023037.2	NP_075463.2	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)	40	5883	+		Lung SC(185;0.0271)	1796					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.5387T>C	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.427615	0.83667	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.33438	1.41	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.41949	0.1181	M	0.78637	2.42	0.80722	D	1	B	0.32893	0.389	B	0.35899	0.213	T	0.41466	-0.9507	10	0.87932	D	0	.	16.542	0.84395	0.0:0.0:0.0:1.0	.	1796	Q5TBA9	FRY_HUMAN	T	1796;633	ENSP00000369600:I1796T	ENSP00000369600:I1796T	I	+	2	0	FRY	31700773	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.304000	0.77564	0.528000	0.53228	ATT		0.493	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		23	52	0	0	0	1	0	23	52				
IRF2BP1	26145	broad.mit.edu	37	19	46387368	46387368	+	Silent	SNP	G	G	A			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr19:46387368G>A	ENST00000302165.3	-	1	2008	c.1665C>T	c.(1663-1665)gtC>gtT	p.V555V		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	555					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CGGAGGAGCCGACCAGCGGGC	0.632																																						ENST00000302165.3																			0				cervix(1)|kidney(1)|lung(2)	4						c.(1663-1665)gtC>gtT		interferon regulatory factor 2 binding protein 1							49.0	47.0	48.0					19																	46387368		2202	4300	6502	SO:0001819	synonymous_variant	26145				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:46387368G>A	AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.1665C>T	19.37:g.46387368G>A							p.V555V	NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)	1	2008	-		all_neural(266;0.113)|Ovarian(192;0.127)	555					Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Silent	SNP	ENST00000302165.3	37	c.1665C>T	CCDS12678.1																																																																																				0.632	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461683.1	NM_015649		7	23	0	0	0	1	0	7	23				
GBF1	8729	broad.mit.edu	37	10	104136068	104136068	+	Missense_Mutation	SNP	A	A	T			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr10:104136068A>T	ENST00000369983.3	+	31	4183	c.3923A>T	c.(3922-3924)aAt>aTt	p.N1308I		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1308					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TACCATCAGAATGACGTGAGC	0.582																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(3922-3924)aAt>aTt		golgi brefeldin A resistant guanine nucleotide exchange factor 1							93.0	78.0	83.0					10																	104136068		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104136068A>T	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.3923A>T	10.37:g.104136068A>T	ENSP00000359000:p.Asn1308Ile						p.N1308I	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	31	4183	+		Colorectal(252;0.0236)	1308					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.3923A>T	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	A	14.35	2.508365	0.44660	.	.	ENSG00000107862	ENST00000369983	T	0.09817	2.94	5.38	0.344	0.16006	.	0.122041	0.85682	D	0.000000	T	0.03827	0.0108	N	0.03608	-0.345	0.40336	D	0.978982	B;B;B	0.19935	0.03;0.029;0.04	B;B;B	0.22601	0.04;0.026;0.034	T	0.41502	-0.9505	10	0.37606	T	0.19	-6.3534	4.9511	0.14015	0.4696:0.1605:0.3699:0.0	.	1308;1308;1308	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	I	1308	ENSP00000359000:N1308I	ENSP00000359000:N1308I	N	+	2	0	GBF1	104126058	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	2.689000	0.46993	0.139000	0.18822	0.533000	0.62120	AAT		0.582	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			15	19	0	0	0	1	0	15	19				
HUS1B	135458	broad.mit.edu	37	6	656774	656774	+	Silent	SNP	C	C	T			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr6:656774C>T	ENST00000380907.2	-	1	189	c.171G>A	c.(169-171)gaG>gaA	p.E57E	EXOC2_ENST00000448181.3_Intron|EXOC2_ENST00000230449.4_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	57					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)	checkpoint clamp complex (GO:0030896)|nucleolus (GO:0005730)				endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		CCTGCCGCACCTCGCACCACA	0.692																																						ENST00000380907.2																			0				endometrium(3)|large_intestine(1)|lung(7)	11						c.(169-171)gaG>gaA		HUS1 checkpoint homolog b (S. pombe)							13.0	12.0	12.0					6																	656774		2189	4276	6465	SO:0001819	synonymous_variant	135458							g.chr6:656774C>T	AF508547	CCDS4470.1	6p25.3	2008-08-08	2001-11-28		ENSG00000188996	ENSG00000188996			16485	protein-coding gene	gene with protein product		609713	"""HUS1 (S. pombe) checkpoint homolog b"""			11944979	Standard	NM_148959		Approved		uc003mtg.3	Q8NHY5	OTTHUMG00000090059	ENST00000380907.2:c.171G>A	6.37:g.656774C>T						EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	p.E57E	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)	1	189	-	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	57					Q5T4Z2	Silent	SNP	ENST00000380907.2	37	c.171G>A	CCDS4470.1																																																																																				0.692	HUS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205617.2	NM_148959		5	13	0	0	0	1	0	5	13				
FGF21	26291	broad.mit.edu	37	19	49261318	49261318	+	Silent	SNP	A	A	C			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr19:49261318A>C	ENST00000593756.1	+	4	1043	c.471A>C	c.(469-471)gcA>gcC	p.A157A	FGF21_ENST00000222157.3_Silent_p.A157A|FUT1_ENST00000310160.3_5'Flank			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	157					cell-cell signaling (GO:0007267)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glucose import (GO:0046326)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|regulation of low-density lipoprotein particle clearance (GO:0010988)|signal transduction (GO:0007165)	extracellular region (GO:0005576)				breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		GGGACCCTGCACCCCGAGGAC	0.682																																						ENST00000593756.1																			0				breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8						c.(469-471)gcA>gcC		fibroblast growth factor 21							28.0	35.0	33.0					19																	49261318		2202	4298	6500	SO:0001819	synonymous_variant	26291				cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity	g.chr19:49261318A>C	AB021975	CCDS12734.1	19q13.33	2012-09-20			ENSG00000105550	ENSG00000105550			3678	protein-coding gene	gene with protein product		609436				10858549	Standard	XM_005258731		Approved		uc002pko.1	Q9NSA1		ENST00000593756.1:c.471A>C	19.37:g.49261318A>C						FGF21_ENST00000222157.3_Silent_p.A157A	p.A157A			Q9NSA1	FGF21_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)	4	1043	+		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	157					Q8N683	Silent	SNP	ENST00000593756.1	37	c.471A>C	CCDS12734.1																																																																																				0.682	FGF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466200.1			18	76	0	0	0	1	0	18	76				
PCNXL2	80003	broad.mit.edu	37	1	233296140	233296140	+	Missense_Mutation	SNP	C	C	T	rs370457665		TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr1:233296140C>T	ENST00000258229.9	-	19	3640	c.3406G>A	c.(3406-3408)Gtg>Atg	p.V1136M	PCNXL2_ENST00000520463.1_5'UTR|PCNXL2_ENST00000488780.2_Missense_Mutation_p.V269M	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1136						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACAAACCCCACGGCTCCAGCC	0.498																																						ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(3406-3408)Gtg>Atg		pecanex-like 2 (Drosophila)		C	MET/VAL	0,3918		0,0,1959	78.0	76.0	76.0		3406	4.8	0.9	1		76	1,8317		0,1,4158	no	missense	PCNXL2	NM_014801.3	21	0,1,6117	TT,TC,CC		0.012,0.0,0.0082	probably-damaging	1136/2138	233296140	1,12235	1959	4159	6118	SO:0001583	missense	80003					integral to membrane		g.chr1:233296140C>T	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.3406G>A	1.37:g.233296140C>T	ENSP00000258229:p.Val1136Met					PCNXL2_ENST00000488780.2_Missense_Mutation_p.V269M|PCNXL2_ENST00000520463.1_5'UTR	p.V1136M	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			19	3640	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1136					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.3406G>A	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200120	0.79015	0.0	1.2E-4	ENSG00000135749	ENST00000258229;ENST00000488780	T	0.11930	2.73	4.81	4.81	0.61882	.	.	.	.	.	T	0.39809	0.1092	M	0.81802	2.56	0.80722	D	1	D	0.76494	0.999	D	0.64410	0.925	T	0.40720	-0.9548	9	0.87932	D	0	.	18.0806	0.89440	0.0:1.0:0.0:0.0	.	1136	A6NKB5	PCX2_HUMAN	M	1136;269	ENSP00000258229:V1136M	ENSP00000258229:V1136M	V	-	1	0	PCNXL2	231362763	1.000000	0.71417	0.943000	0.38184	0.505000	0.33919	7.286000	0.78671	2.466000	0.83321	0.650000	0.86243	GTG		0.498	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		5	32	0	0	0	1	0	5	32				
ARL4D	379	broad.mit.edu	37	17	41477145	41477145	+	Silent	SNP	C	C	T			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr17:41477145C>T	ENST00000320033.4	+	2	252	c.45C>T	c.(43-45)ttC>ttT	p.F15F		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	15					GTP catabolic process (GO:0006184)|protein secretion (GO:0009306)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CCTCCTCCTTCTTGCCCCACT	0.562																																						ENST00000320033.4																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(43-45)ttC>ttT		ADP-ribosylation factor-like 4D							73.0	71.0	71.0					17																	41477145		2203	4300	6503	SO:0001819	synonymous_variant	379				protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:41477145C>T	AB060692	CCDS11463.1	17q21.31	2014-05-09	2005-11-03	2005-11-03	ENSG00000175906	ENSG00000175906		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	656	protein-coding gene	gene with protein product		600732	"""ADP-ribosylation factor 4-like"""	ARF4L		7590735	Standard	NM_001661		Approved		uc002idt.3	P49703		ENST00000320033.4:c.45C>T	17.37:g.41477145C>T							p.F15F	NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.155)	2	252	+		Breast(137;0.00908)	15					B2RC59|D3DX43	Silent	SNP	ENST00000320033.4	37	c.45C>T	CCDS11463.1																																																																																				0.562	ARL4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453481.2	NM_001661		7	59	0	0	0	1	0	7	59				
TACR3	6870	broad.mit.edu	37	4	104640456	104640456	+	Missense_Mutation	SNP	T	T	C			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr4:104640456T>C	ENST00000304883.2	-	1	517	c.377A>G	c.(376-378)aAc>aGc	p.N126S		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	126					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GAAAGCCAGGTTCACAAGGAA	0.547																																						ENST00000304883.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(376-378)aAc>aGc		tachykinin receptor 3							130.0	116.0	121.0					4																	104640456		2203	4300	6503	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104640456T>C	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.377A>G	4.37:g.104640456T>C	ENSP00000303325:p.Asn126Ser						p.N126S	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	1	517	-		Hepatocellular(203;0.217)	126					Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.377A>G	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.454909	0.84209	.	.	ENSG00000169836	ENST00000304883	T	0.43688	0.94	4.95	4.95	0.65309	GPCR, rhodopsin-like superfamily (1);	0.231565	0.43416	N	0.000562	T	0.56470	0.1987	L	0.46947	1.48	0.58432	D	0.999999	D	0.76494	0.999	D	0.71414	0.973	T	0.60125	-0.7324	10	0.87932	D	0	.	13.8219	0.63325	0.0:0.0:0.0:1.0	.	126	P29371	NK3R_HUMAN	S	126	ENSP00000303325:N126S	ENSP00000303325:N126S	N	-	2	0	TACR3	104859905	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.666000	0.83877	1.843000	0.53566	0.383000	0.25322	AAC		0.547	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		14	40	0	0	0	1	0	14	40				
NBPF15	284565	broad.mit.edu	37	1	148594434	148594434	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr1:148594434G>A	ENST00000369187.3	+	19	2296	c.1807G>A	c.(1807-1809)Gtc>Atc	p.V603I	NBPF15_ENST00000442702.2_Missense_Mutation_p.V603I	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	603	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					AGAGCCTGAAGTCTTACAGGA	0.458																																						ENST00000442702.2																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(1807-1809)Gtc>Atc		neuroblastoma breakpoint family, member 15																																				SO:0001583	missense	284565					cytoplasm		g.chr1:148594434G>A	BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"""neuroblastoma breakpoint family"""	28791	protein-coding gene	gene with protein product		610414, 614005	"""neuroblastoma breakpoint family, member 16"""	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.1807G>A	1.37:g.148594434G>A	ENSP00000358188:p.Val603Ile					NBPF15_ENST00000369187.3_Missense_Mutation_p.V603I	p.V603I	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN			21	2874	+	all_hematologic(923;0.032)		603			NBPF 6.		Q3BBV9|Q8IX77	Missense_Mutation	SNP	ENST00000369187.3	37	c.1807G>A	CCDS932.1	.	.	.	.	.	.	.	.	.	.	.	10.11	1.259285	0.23051	.	.	ENSG00000243452	ENST00000442702;ENST00000369187	T;T	0.15372	2.43;2.43	0.502	0.502	0.16932	DUF1220 (2);	.	.	.	.	T	0.27098	0.0664	M	0.84683	2.71	0.09310	N	1	D	0.57257	0.979	D	0.75484	0.986	T	0.02539	-1.1144	8	0.56958	D	0.05	.	.	.	.	.	603	Q8N660	NBPFF_HUMAN	I	603	ENSP00000416864:V603I;ENSP00000358188:V603I	ENSP00000358188:V603I	V	+	1	0	NBPF15	146861058	0.951000	0.32395	0.009000	0.14445	0.006000	0.05464	0.894000	0.28350	0.557000	0.29117	0.377000	0.23210	GTC		0.458	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638		5	162	0	0	0	1	0	5	162				
MVB12B	89853	broad.mit.edu	37	9	129148885	129148885	+	Silent	SNP	C	C	T			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr9:129148885C>T	ENST00000361171.3	+	4	438	c.357C>T	c.(355-357)atC>atT	p.I119I	MVB12B_ENST00000545391.1_Silent_p.I119I|MVB12B_ENST00000436593.3_Silent_p.I104I|MVB12B_ENST00000535766.1_Silent_p.I112I	NM_033446.2	NP_258257.1	Q9H7P6	MB12B_HUMAN	multivesicular body subunit 12B	119	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytosol (GO:0005829)|early endosome (GO:0005769)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	lipid binding (GO:0008289)										TCATTGACATCAAGGACACAC	0.453																																						ENST00000361171.3																			0											c.(355-357)atC>atT		multivesicular body subunit 12B							125.0	98.0	107.0					9																	129148885		2203	4300	6503	SO:0001819	synonymous_variant	89853							g.chr9:129148885C>T	AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814			23368	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 28"", ""family with sequence similarity 125, member B"""	C9orf28, FAM125B		18005716, 20654576, 22232651	Standard	NM_033446		Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.357C>T	9.37:g.129148885C>T						MVB12B_ENST00000545391.1_Silent_p.I119I|MVB12B_ENST00000535766.1_Silent_p.I112I|MVB12B_ENST00000436593.3_Silent_p.I104I	p.I119I	NM_033446.2	NP_258257.1					4	438	+								Q8N6S7	Silent	SNP	ENST00000361171.3	37	c.357C>T	CCDS35142.1																																																																																				0.453	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054110.1	XM_088525		3	32	0	0	0	1	0	3	32				
HIST1H2BG	8339	broad.mit.edu	37	6	26216705	26216705	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr6:26216705G>A	ENST00000244601.3	-	1	167	c.167C>T	c.(166-168)tCa>tTa	p.S56L	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	56					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				GGCCTTGGATGAGATGCCAGT	0.537																																						ENST00000244601.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(166-168)tCa>tTa		histone cluster 1, H2bg							234.0	212.0	219.0					6																	26216705		2203	4300	6503	SO:0001583	missense	8339				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26216705G>A	M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"""Histones / Replication-dependent"""	4746	protein-coding gene	gene with protein product		602798	"""H2B histone family, member A"", ""histone 1, H2bg"""	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.167C>T	6.37:g.26216705G>A	ENSP00000244601:p.Ser56Leu						p.S56L	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN			1	167	-		all_hematologic(11;0.196)	56					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000244601.3	37	c.167C>T	CCDS4594.1	.	.	.	.	.	.	.	.	.	.	.	16.64	3.180487	0.57800	.	.	ENSG00000187990	ENST00000244601	T	0.73681	-0.77	4.12	4.12	0.48240	.	.	.	.	.	T	0.80193	0.4578	.	.	.	0.41726	D	0.989539	.	.	.	.	.	.	T	0.83078	-0.0139	6	0.66056	D	0.02	.	15.8861	0.79251	0.0:0.0:1.0:0.0	.	.	.	.	L	56	ENSP00000244601:S56L	ENSP00000244601:S56L	S	-	2	0	HIST1H2BG	26324684	1.000000	0.71417	0.997000	0.53966	0.033000	0.12548	9.420000	0.97426	2.290000	0.77057	0.655000	0.94253	TCA		0.537	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040109.2	NM_003518		19	168	0	0	0	1	0	19	168				
BSN	8927	broad.mit.edu	37	3	49689757	49689757	+	Missense_Mutation	SNP	C	C	G			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr3:49689757C>G	ENST00000296452.4	+	5	2882	c.2768C>G	c.(2767-2769)aCc>aGc	p.T923S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	923					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGCAGTGGGACCCTGCAGGGT	0.632																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(2767-2769)aCc>aGc		bassoon presynaptic cytomatrix protein							40.0	41.0	41.0					3																	49689757		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49689757C>G	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.2768C>G	3.37:g.49689757C>G	ENSP00000296452:p.Thr923Ser						p.T923S	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	2882	+			923					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.2768C>G	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	7.542	0.660892	0.14645	.	.	ENSG00000164061	ENST00000296452	T	0.16597	2.33	4.81	3.93	0.45458	.	0.448654	0.23612	N	0.046334	T	0.09291	0.0229	N	0.11927	0.2	0.18873	N	0.999982	B	0.02656	0.0	B	0.01281	0.0	T	0.31336	-0.9947	10	0.13853	T	0.58	.	12.484	0.55861	0.0:0.917:0.0:0.083	.	923	Q9UPA5	BSN_HUMAN	S	923	ENSP00000296452:T923S	ENSP00000296452:T923S	T	+	2	0	BSN	49664761	0.609000	0.26975	0.466000	0.27168	0.684000	0.39900	3.039000	0.49791	1.004000	0.39156	0.561000	0.74099	ACC		0.632	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		16	44	0	0	0	1	0	16	44				
PEX5	5830	broad.mit.edu	37	12	7362742	7362742	+	Missense_Mutation	SNP	G	G	T			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr12:7362742G>T	ENST00000455147.2	+	17	2423	c.1843G>T	c.(1843-1845)Ggc>Tgc	p.G615C	PEX5_ENST00000412720.2_Missense_Mutation_p.G636C|PEX5_ENST00000266564.3_Missense_Mutation_p.G607C|PEX5_ENST00000420616.2_Missense_Mutation_p.G615C|PEX5_ENST00000266563.5_Missense_Mutation_p.G578C|PEX5_ENST00000434354.2_Missense_Mutation_p.G630C	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	615					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GTCTATGTTAGGCCAGAGCGA	0.622																																						ENST00000266563.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						c.(1732-1734)Ggc>Tgc		peroxisomal biogenesis factor 5							88.0	80.0	83.0					12																	7362742		2203	4300	6503	SO:0001583	missense	5830				protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding	g.chr12:7362742G>T	U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"""Tetratricopeptide (TTC) repeat domain containing"""	9719	protein-coding gene	gene with protein product		600414	"""peroxisome receptor 1"""	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.1843G>T	12.37:g.7362742G>T	ENSP00000400647:p.Gly615Cys					PEX5_ENST00000412720.2_Missense_Mutation_p.G636C|PEX5_ENST00000434354.2_Missense_Mutation_p.G630C|PEX5_ENST00000266564.3_Missense_Mutation_p.G607C|PEX5_ENST00000420616.2_Missense_Mutation_p.G615C|PEX5_ENST00000455147.2_Missense_Mutation_p.G615C	p.G578C	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN			15	1915	+			615					A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Missense_Mutation	SNP	ENST00000455147.2	37	c.1732G>T	CCDS44823.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495987	0.85069	.	.	ENSG00000139197	ENST00000455147;ENST00000266563;ENST00000434354;ENST00000420616;ENST00000412720;ENST00000266564	T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.90017	0.6883	M	0.77313	2.365	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.998;0.998	D;P;D;D;D	0.91635	0.999;0.904;0.929;0.934;0.956	D	0.90854	0.4733	10	0.72032	D	0.01	.	18.7051	0.91635	0.0:0.0:1.0:0.0	.	636;630;615;607;578	B4E0T2;B4DZ45;P50542;P50542-3;P50542-2	.;.;PEX5_HUMAN;.;.	C	615;578;630;615;636;607	ENSP00000400647:G615C;ENSP00000266563:G578C;ENSP00000407401:G630C;ENSP00000410159:G615C;ENSP00000391601:G636C;ENSP00000266564:G607C	ENSP00000266563:G578C	G	+	1	0	PEX5	7254009	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	9.657000	0.98554	2.659000	0.90383	0.561000	0.74099	GGC		0.622	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319		19	65	1	0	4.35082e-09	1	4.62706e-09	19	65				
KMT2B	9757	broad.mit.edu	37	19	36216141	36216141	+	Silent	SNP	C	C	T			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr19:36216141C>T	ENST00000222270.7	+	11	3549	c.3549C>T	c.(3547-3549)aaC>aaT	p.N1183N	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Silent_p.N1183N	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1183					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										ATTTAGAGAACGTGTGGCTGA	0.592																																						ENST00000222270.7																			0											c.(3547-3549)aaC>aaT									27.0	31.0	30.0					19																	36216141		1986	4152	6138	SO:0001819	synonymous_variant	0							g.chr19:36216141C>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.3549C>T	19.37:g.36216141C>T						WBP7_ENST00000420124.1_Silent_p.N1183N|KMT2B_ENST00000607650.1_RNA	p.N1183N	NM_014727.1	NP_055542.1					11	3549	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	ENST00000222270.7	37	c.3549C>T	CCDS46055.1																																																																																				0.592	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		8	19	0	0	0	1	0	8	19				
BCRP7	100133163	broad.mit.edu	37	22	18846025	18846025	+	3'UTR	SNP	G	G	C	rs5993363		TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr22:18846025G>C	ENST00000412938.1	+	0	3383																											GACGTTGAAGGCTGCCTTCAG	0.647																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846025G>C																												ENST00000412938.1:c.*3380G>C	22.37:g.18846025G>C														0	3383	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.647	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	62	0	0	0	1	0	4	62				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			0							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	105	0	0	0	1	0	4	105				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						ENST00000342960.5																			5	Substitution - Missense(5)	p.E3455K(5)	skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10363-10365)Gaa>Aaa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.E3455K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10398	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10363G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	50	0	0	0	1	0	4	50				
TUBBP5	643224	broad.mit.edu	37	9	141070317	141070317	+	RNA	SNP	A	A	G	rs181436611		TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr9:141070317A>G	ENST00000503395.1	+	0	1397									tubulin, beta pseudogene 5																		CCTCTCTTAAACGGGCTTCGG	0.617																																						ENST00000503395.1																			0																																																			0							g.chr9:141070317A>G	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070317A>G														0	1397	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.617	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		2	2	0	0	0	1	0	2	2				
PHACTR3	116154	broad.mit.edu	37	20	58349335	58349335	+	Missense_Mutation	SNP	C	C	T	rs370673509		TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr20:58349335C>T	ENST00000371015.1	+	7	1431	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W	PHACTR3_ENST00000355648.4_Missense_Mutation_p.R281W|PHACTR3_ENST00000395639.4_Missense_Mutation_p.R211W|PHACTR3_ENST00000359926.3_Missense_Mutation_p.R319W|PHACTR3_ENST00000395636.2_Missense_Mutation_p.R281W|PHACTR3_ENST00000361300.4_Missense_Mutation_p.R211W|PHACTR3_ENST00000541461.1_Missense_Mutation_p.R281W	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	322						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TCCAAAGAAGCGGCTGGATGT	0.537																																						ENST00000371015.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59						c.(964-966)Cgg>Tgg		phosphatase and actin regulator 3							49.0	54.0	52.0					20																	58349335		2203	4300	6503	SO:0001583	missense	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58349335C>T	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.964C>T	20.37:g.58349335C>T	ENSP00000360054:p.Arg322Trp					PHACTR3_ENST00000361300.4_Missense_Mutation_p.R211W|PHACTR3_ENST00000355648.4_Missense_Mutation_p.R281W|PHACTR3_ENST00000541461.1_Missense_Mutation_p.R281W|PHACTR3_ENST00000395636.2_Missense_Mutation_p.R281W|PHACTR3_ENST00000359926.3_Missense_Mutation_p.R319W|PHACTR3_ENST00000395639.4_Missense_Mutation_p.R211W	p.R322W	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		7	1431	+	all_lung(29;0.00344)		322					B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	c.964C>T	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.710929	0.48517	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.34072	1.79;1.78;1.38;1.81;1.81;1.81;1.38	5.06	4.05	0.47172	.	0.000000	0.85682	D	0.000000	T	0.55721	0.1938	M	0.72894	2.215	0.53688	D	0.999977	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.973;0.973	T	0.59289	-0.7482	10	0.87932	D	0	-19.6685	10.6385	0.45579	0.354:0.646:0.0:0.0	.	211;322;319	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	W	319;322;211;281;281;281;211	ENSP00000353002:R319W;ENSP00000360054:R322W;ENSP00000379001:R211W;ENSP00000442483:R281W;ENSP00000347866:R281W;ENSP00000378998:R281W;ENSP00000354555:R211W	ENSP00000347866:R281W	R	+	1	2	PHACTR3	57782730	1.000000	0.71417	0.985000	0.45067	0.292000	0.27327	1.635000	0.37134	2.335000	0.79485	0.655000	0.94253	CGG		0.537	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		13	34	0	0	0	1	0	13	34				
FOLH1	2346	broad.mit.edu	37	11	49175929	49175929	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr11:49175929C>T	ENST00000256999.2	-	16	1999	c.1739G>A	c.(1738-1740)cGa>cAa	p.R580Q	FOLH1_ENST00000340334.7_Missense_Mutation_p.R565Q|FOLH1_ENST00000356696.3_Missense_Mutation_p.R580Q|FOLH1_ENST00000533034.1_Missense_Mutation_p.R565Q|FOLH1_ENST00000343844.4_Missense_Mutation_p.R272Q	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	580	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	CATCCCTCCTCGAACCTGGGC	0.408																																						ENST00000340334.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(1693-1695)cGa>cAa		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						79.0	67.0	71.0					11																	49175929		2200	4278	6478	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49175929C>T	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1739G>A	11.37:g.49175929C>T	ENSP00000256999:p.Arg580Gln					FOLH1_ENST00000256999.2_Missense_Mutation_p.R580Q|FOLH1_ENST00000356696.3_Missense_Mutation_p.R580Q|FOLH1_ENST00000533034.1_Missense_Mutation_p.R565Q|FOLH1_ENST00000343844.4_Missense_Mutation_p.R272Q	p.R565Q	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN			17	2062	-			580			NAALADase.		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.1694G>A	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.927996	0.73327	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034	T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09	3.62	3.62	0.41486	.	0.000000	0.45606	D	0.000343	T	0.56046	0.1959	L	0.51914	1.62	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.984	D;D;D;P	0.97110	0.995;1.0;0.926;0.684	T	0.55909	-0.8066	10	0.44086	T	0.13	.	13.124	0.59342	0.0:1.0:0.0:0.0	.	565;565;580;580	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	Q	580;580;565;272;565	ENSP00000256999:R580Q;ENSP00000349129:R580Q;ENSP00000344131:R565Q;ENSP00000344086:R272Q;ENSP00000431463:R565Q	ENSP00000256999:R580Q	R	-	2	0	FOLH1	49132505	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.912000	0.75753	2.044000	0.60594	0.404000	0.27445	CGA		0.408	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		18	46	0	0	0	1	0	18	46				
RABEP2	79874	broad.mit.edu	37	16	28931263	28931263	+	Splice_Site	SNP	G	G	A			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr16:28931263G>A	ENST00000358201.4	-	3	864	c.276C>T	c.(274-276)gaC>gaT	p.D92D	RABEP2_ENST00000561803.1_5'UTR|RABEP2_ENST00000357573.6_Splice_Site_p.D92D|RABEP2_ENST00000544477.1_Splice_Site_p.D21D	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	92					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						TGCTGATGGAGTCTGGTgggg	0.627																																					Pancreas(66;639 1284 10093 31061 49099)	ENST00000358201.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						c.e3-1		rabaptin, RAB GTPase binding effector protein 2							25.0	27.0	26.0					16																	28931263		2013	4174	6187	SO:0001630	splice_region_variant	79874				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity	g.chr16:28931263G>A	AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.275-1C>T	16.37:g.28931263G>A						RABEP2_ENST00000544477.1_Splice_Site_p.D21_splice|RABEP2_ENST00000357573.6_Splice_Site_p.D92_splice|RABEP2_ENST00000561803.1_5'UTR	p.D92_splice	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN			3	864	-			92						Splice_Site	SNP	ENST00000358201.4	37	c.274_splice	CCDS42140.1																																																																																				0.627	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816	Silent	3	18	0	0	0	1	0	3	18				
GGTLC1	92086	broad.mit.edu	37	20	23967157	23967157	+	Missense_Mutation	SNP	A	A	G			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr20:23967157A>G	ENST00000335694.4	-	2	296	c.92T>C	c.(91-93)aTg>aCg	p.M31T	GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	31					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)	p.M31T(6)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GTCATCCGGCATGTAGAACTC	0.622																																						ENST00000335694.4																			6	Substitution - Missense(6)	p.M31T(6)	lung(4)|NS(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(91-93)aTg>aCg		gamma-glutamyltransferase light chain 1							67.0	61.0	63.0					20																	23967157		2203	4300	6503	SO:0001583	missense	92086						gamma-glutamyltransferase activity	g.chr20:23967157A>G	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"""Gamma-glutamyltransferases"""	16437	protein-coding gene	gene with protein product		612338	"""gamma-glutamyltransferase-like activity 4"", ""gamma-glutamyltransferase-like activity 3"""	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.92T>C	20.37:g.23967157A>G	ENSP00000337587:p.Met31Thr					GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T	p.M31T	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN			2	296	-			31					D3DW43|Q08246	Missense_Mutation	SNP	ENST00000335694.4	37	c.92T>C	CCDS13163.1	.	.	.	.	.	.	.	.	.	.	a	0	-2.745202	0.00087	.	.	ENSG00000149435	ENST00000286890;ENST00000278765;ENST00000335694	T;T;T	0.05786	3.39;3.39;3.39	0.844	-1.69	0.08186	.	0.459428	0.22918	N	0.054055	T	0.01092	0.0036	N	0.00332	-1.63	0.20403	N	0.999909	B	0.02656	0.0	B	0.01281	0.0	T	0.28996	-1.0026	10	0.02654	T	1	-29.1837	4.9338	0.13930	0.5039:0.0:0.4961:0.0	.	31	Q9BX51	GGTL1_HUMAN	T	31	ENSP00000286890:M31T;ENSP00000278765:M31T;ENSP00000337587:M31T	ENSP00000278765:M31T	M	-	2	0	GGTLC1	23915157	0.993000	0.37304	0.024000	0.17045	0.024000	0.10985	1.453000	0.35167	-1.885000	0.01118	-1.888000	0.00539	ATG		0.622	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2		4	58	0	0	0	1	0	4	58				
CELF3	11189	broad.mit.edu	37	1	151680008	151680008	+	Silent	SNP	G	G	A			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr1:151680008G>A	ENST00000290583.4	-	7	1540	c.747C>T	c.(745-747)atC>atT	p.I249I	RIIAD1_ENST00000326413.3_5'Flank|CELF3_ENST00000392706.3_Silent_p.I66I|RP11-98D18.1_ENST00000457548.1_RNA|AL589765.1_ENST00000442233.2_5'Flank|CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000290585.4_Silent_p.I249I	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	249					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						TGGGGGTGGCGATGAGGCCAT	0.647																																						ENST00000290583.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						c.(745-747)atC>atT		CUGBP, Elav-like family member 3							32.0	30.0	31.0					1																	151680008		2203	4300	6503	SO:0001819	synonymous_variant	11189				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding	g.chr1:151680008G>A	U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"""Trinucleotide (CAG) repeat containing"", ""RNA binding motif (RRM) containing"""	11967	protein-coding gene	gene with protein product	"""expanded repeat domain, CAG/CTG 4"", ""CAG repeat domain"", ""CUG-BP and ETR-3 like factor 3"""	612678	"""trinucleotide repeat containing 4"""	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.747C>T	1.37:g.151680008G>A						CELF3_ENST00000290585.4_Silent_p.I249I|CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000392706.3_Silent_p.I66I|RP11-98D18.1_ENST00000457548.1_RNA	p.I249I	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN			7	1540	-			249					B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Silent	SNP	ENST00000290583.4	37	c.747C>T	CCDS1002.1	.	.	.	.	.	.	.	.	.	.	.	9.523	1.108688	0.20714	.	.	ENSG00000159409	ENST00000420342	.	.	.	4.04	0.262	0.15597	.	.	.	.	.	T	0.27205	0.0667	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.16070	-1.0415	4	.	.	.	-13.4659	3.3959	0.07305	0.283:0.0:0.4031:0.3138	.	.	.	.	L	250	.	.	S	-	2	0	CELF3	149946632	0.000000	0.05858	0.999000	0.59377	0.999000	0.98932	-2.490000	0.00975	0.026000	0.15269	0.650000	0.86243	TCG		0.647	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185		7	23	0	0	0	1	0	7	23				
UBBP4	23666	broad.mit.edu	37	17	21730847	21730847	+	Missense_Mutation	SNP	G	G	T	rs570609187	byFrequency	TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr17:21730847G>T	ENST00000578713.1	+	1	153	c.149G>T	c.(148-150)cGg>cTg	p.R50L	UBBP4_ENST00000584755.1_Missense_Mutation_p.R50L|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron					ubiquitin B pseudogene 4											endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGCAAGCAGCGGGAAGATGGC	0.522													.|||	3	0.000599042	0.0008	0.0	5008	,	,		21142	0.002		0.0	False		,,,				2504	0.0					ENST00000584755.1																			0				endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(148-150)cGg>cTg																																						SO:0001583	missense	0							g.chr17:21730847G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.149G>T	17.37:g.21730847G>T	ENSP00000464265:p.Arg50Leu					UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L|UBBP4_ENST00000584398.1_Intron	p.R50L							2	546	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.149G>T																																																																																					0.522	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			4	48	1	0	0.00909568	1	0.00923349	4	48				
CLDN14	23562	broad.mit.edu	37	21	37833680	37833680	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr21:37833680G>A	ENST00000399137.1	-	3	1180	c.314C>T	c.(313-315)aCg>aTg	p.T105M	AP000695.4_ENST00000428667.1_RNA|AP000695.4_ENST00000454980.1_RNA|CLDN14_ENST00000342108.2_Missense_Mutation_p.T105M|AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000399135.1_Missense_Mutation_p.T105M|CLDN14_ENST00000399136.1_Missense_Mutation_p.T105M|CLDN14_ENST00000399139.1_Missense_Mutation_p.T105M	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	105					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|protein complex assembly (GO:0006461)|tight junction assembly (GO:0070830)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|lung(5)|skin(1)	7						GGCGCAGCGCGTGCACTTCAT	0.687																																						ENST00000399137.1																			0				endometrium(1)|lung(5)|skin(1)	7						c.(313-315)aCg>aTg		claudin 14							52.0	52.0	52.0					21																	37833680		2203	4299	6502	SO:0001583	missense	23562				calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr21:37833680G>A	AJ132445	CCDS13645.1	21q22.3	2008-07-31			ENSG00000159261	ENSG00000159261		"""Claudins"""	2035	protein-coding gene	gene with protein product		605608		DFNB29		11163249	Standard	NM_144492		Approved		uc002yvk.2	O95500	OTTHUMG00000086638	ENST00000399137.1:c.314C>T	21.37:g.37833680G>A	ENSP00000382090:p.Thr105Met					CLDN14_ENST00000342108.2_Missense_Mutation_p.T105M|CLDN14_ENST00000399136.1_Missense_Mutation_p.T105M|AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000399139.1_Missense_Mutation_p.T105M|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399135.1_Missense_Mutation_p.T105M	p.T105M	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN			3	1180	-			105						Missense_Mutation	SNP	ENST00000399137.1	37	c.314C>T	CCDS13645.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090856	0.76756	.	.	ENSG00000159261	ENST00000399139;ENST00000399137;ENST00000399135;ENST00000399136;ENST00000342108	D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.95194	0.8442	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95287	0.8391	10	0.59425	D	0.04	.	19.2271	0.93821	0.0:0.0:1.0:0.0	.	105	O95500	CLD14_HUMAN	M	105	ENSP00000382092:T105M;ENSP00000382090:T105M;ENSP00000382087:T105M;ENSP00000382088:T105M;ENSP00000339292:T105M	ENSP00000339292:T105M	T	-	2	0	CLDN14	36755550	1.000000	0.71417	0.973000	0.42090	0.488000	0.33401	9.731000	0.98807	2.526000	0.85167	0.462000	0.41574	ACG		0.687	CLDN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194697.1	NM_144492		26	59	0	0	0	1	0	26	59				
DNM1P47	100216544	broad.mit.edu	37	15	102292809	102292809	+	RNA	SNP	C	C	A			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr15:102292809C>A	ENST00000561463.1	+	0	855									DNM1 pseudogene 47																		AACCTGCACTCGCGTGGGAAC	0.602																																						ENST00000561463.1																			0																																																			0							g.chr15:102292809C>A	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292809C>A														0	855	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.602	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	35	1	0	1	1	1	3	35				
GUSBP1	728411	broad.mit.edu	37	5	21491446	21491446	+	RNA	SNP	G	G	T	rs371964320		TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr5:21491446G>T	ENST00000607545.1	+	0	179					NR_027026.1		Q15486	GUSP1_HUMAN	glucuronidase, beta pseudogene 1						carbohydrate metabolic process (GO:0005975)|nervous system development (GO:0007399)|skeletal system development (GO:0001501)		hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)										TGAATTACCAGATCTCCGTCA	0.532																																						ENST00000607545.1																			0																																																			0							g.chr5:21491446G>T	BC064850, X75940		5p14.3	2012-10-04			ENSG00000183666	ENSG00000183666			13670	pseudogene	pseudogene						8565635	Standard	NR_027026		Approved		uc010iub.3	Q15486	OTTHUMG00000162474		5.37:g.21491446G>T								NR_027026.1						0	179	+								A6NLY8|A8K1B7|Q969T8|Q9BUH2	RNA	SNP	ENST00000607545.1	37																																																																																						0.532	GUSBP1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470546.1	NG_008324		4	34	1	0	3.99206e-14	1	4.314e-14	4	34				
MMP12	4321	broad.mit.edu	37	11	102736506	102736506	+	RNA	SNP	C	C	T			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr11:102736506C>T	ENST00000532855.1	-	0	1301							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	TTAAAACTCACCTCCAATACT	0.383																																						ENST00000532855.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)						47.0	45.0	45.0					11																	102736506		1828	4070	5898			4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102736506C>T	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102736506C>T										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	1301	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	SNP	ENST00000532855.1	37																																																																																						0.383	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		5	9	0	0	0	1	0	5	9				
TCTN2	79867	broad.mit.edu	37	12	124179517	124179517	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr12:124179517C>T	ENST00000303372.5	+	10	1356	c.1228C>T	c.(1228-1230)Cag>Tag	p.Q410*	TCTN2_ENST00000426174.2_Nonsense_Mutation_p.Q409*	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	410					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TAATGCCCACCAGAAAGGTAA	0.299																																						ENST00000303372.5																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1228-1230)Cag>Tag		tectonic family member 2							42.0	47.0	45.0					12																	124179517		2196	4299	6495	SO:0001587	stop_gained	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124179517C>T	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.1228C>T	12.37:g.124179517C>T	ENSP00000304941:p.Gln410*					TCTN2_ENST00000426174.2_Nonsense_Mutation_p.Q409*	p.Q410*	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	10	1356	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		410					A8K7Y8|B3KPW5|Q9H966	Nonsense_Mutation	SNP	ENST00000303372.5	37	c.1228C>T	CCDS9253.1	.	.	.	.	.	.	.	.	.	.	C	38	7.072069	0.98044	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	.	.	.	5.36	4.43	0.53597	.	0.702623	0.13606	N	0.375451	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-2.8292	3.3019	0.06985	0.2613:0.4964:0.1513:0.091	.	.	.	.	X	409;410	.	ENSP00000304941:Q410X	Q	+	1	0	TCTN2	122745470	0.679000	0.27596	0.850000	0.33497	0.973000	0.67179	0.937000	0.28951	1.182000	0.42928	0.558000	0.71614	CAG		0.299	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		10	32	0	0	0	1	0	10	32				
ZNF619	285267	broad.mit.edu	37	3	40529513	40529513	+	Silent	SNP	G	G	A			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr3:40529513G>A	ENST00000314686.5	+	6	1869	c.1464G>A	c.(1462-1464)ctG>ctA	p.L488L	ZNF619_ENST00000456778.1_Silent_p.L460L|ZNF619_ENST00000429348.2_Silent_p.L504L|ZNF619_ENST00000432264.2_Silent_p.L504L|ZNF619_ENST00000447116.2_Silent_p.L544L|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000522736.1_Silent_p.L495L|ZNF619_ENST00000521353.1_Silent_p.L544L			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	488					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TCTCTCCTCTGCCTCCCCAAC	0.547																																						ENST00000447116.2																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1630-1632)ctG>ctA		zinc finger protein 619							158.0	107.0	124.0					3																	40529513		2203	4300	6503	SO:0001819	synonymous_variant	285267				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:40529513G>A	AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.1464G>A	3.37:g.40529513G>A						ZNF619_ENST00000522736.1_Silent_p.L495L|ZNF619_ENST00000429348.2_Silent_p.L504L|ZNF619_ENST00000314686.5_Silent_p.L488L|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000456778.1_Silent_p.L460L|ZNF619_ENST00000432264.2_Silent_p.L504L|ZNF619_ENST00000521353.1_Silent_p.L544L	p.L544L	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	6	1939	+			544					B4E271|C9JRN5|D4PHA2|E9PCD9	Silent	SNP	ENST00000314686.5	37	c.1632G>A																																																																																					0.547	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656		18	49	0	0	0	1	0	18	49				
SDHAP1	255812	broad.mit.edu	37	3	195717061	195717061	+	RNA	SNP	C	C	A	rs182566717		TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr3:195717061C>A	ENST00000427841.1	-	0	89					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AGGGACTCACCGCCTTGGCCA	0.791																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195717061C>A	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195717061C>A								NR_003264.2						0	89	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.791	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			7	12	1	0	0.00448238	1	0.0046203	7	12				
ZNF572	137209	broad.mit.edu	37	8	125989619	125989619	+	Missense_Mutation	SNP	A	A	G			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr8:125989619A>G	ENST00000319286.5	+	3	1263	c.1109A>G	c.(1108-1110)aAt>aGt	p.N370S		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	370					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CAGAACTGCAATGTGATAGAA	0.393										HNSCC(60;0.17)																												ENST00000319286.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31						c.(1108-1110)aAt>aGt		zinc finger protein 572							91.0	88.0	89.0					8																	125989619		2203	4300	6503	SO:0001583	missense	137209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:125989619A>G	BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.1109A>G	8.37:g.125989619A>G	ENSP00000319305:p.Asn370Ser	HNSCC(60;0.17)					p.N370S	NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		3	1263	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		370					A1L4F1|Q8N1Q0	Missense_Mutation	SNP	ENST00000319286.5	37	c.1109A>G	CCDS6354.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.015790	0.00042	.	.	ENSG00000180938	ENST00000319286	T	0.01152	5.26	5.09	-6.72	0.01755	.	1.515610	0.03657	N	0.241969	T	0.00695	0.0023	N	0.12831	0.26	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49214	-0.8963	10	0.02654	T	1	0.2784	8.6421	0.33983	0.6884:0.0:0.1935:0.1181	.	370	Q7Z3I7	ZN572_HUMAN	S	370	ENSP00000319305:N370S	ENSP00000319305:N370S	N	+	2	0	ZNF572	126058800	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.162000	0.16501	-1.320000	0.02283	-1.064000	0.02280	AAT		0.393	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412		3	51	0	0	0	1	0	3	51				
PDLIM5	10611	broad.mit.edu	37	4	95496948	95496948	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr4:95496948C>T	ENST00000317968.4	+	5	609	c.473C>T	c.(472-474)tCa>tTa	p.S158L	PDLIM5_ENST00000514743.1_Intron|PDLIM5_ENST00000318007.5_Intron|PDLIM5_ENST00000538141.1_Intron|PDLIM5_ENST00000450793.1_Intron|PDLIM5_ENST00000380180.3_Intron|PDLIM5_ENST00000437932.1_Intron|PDLIM5_ENST00000508216.1_Intron|PDLIM5_ENST00000542407.1_Missense_Mutation_p.S36L	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	158					regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		GCGACCACCTCATCACATGCT	0.547																																						ENST00000317968.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(472-474)tCa>tTa		PDZ and LIM domain 5							278.0	233.0	248.0					4																	95496948		2203	4300	6503	SO:0001583	missense	10611				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding	g.chr4:95496948C>T	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.473C>T	4.37:g.95496948C>T	ENSP00000321746:p.Ser158Leu					PDLIM5_ENST00000542407.1_Missense_Mutation_p.S36L|PDLIM5_ENST00000380180.3_Intron|PDLIM5_ENST00000437932.1_Intron|PDLIM5_ENST00000508216.1_Intron|PDLIM5_ENST00000538141.1_Intron|PDLIM5_ENST00000514743.1_Intron|PDLIM5_ENST00000318007.5_Intron|PDLIM5_ENST00000450793.1_Intron	p.S158L	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448.4	Q96HC4	PDLI5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)	5	609	+		Hepatocellular(203;0.114)	158					A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	37	c.473C>T	CCDS3641.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.785177	0.90282	.	.	ENSG00000163110	ENST00000317968;ENST00000542407	T;T	0.60548	0.66;0.18	4.97	4.97	0.65823	.	0.350362	0.26927	N	0.021799	T	0.53029	0.1771	L	0.57536	1.79	0.52501	D	0.999954	P	0.43094	0.799	B	0.35039	0.194	T	0.61242	-0.7102	10	0.51188	T	0.08	.	17.3919	0.87434	0.0:1.0:0.0:0.0	.	158	Q96HC4	PDLI5_HUMAN	L	158;36	ENSP00000321746:S158L;ENSP00000442187:S36L	ENSP00000321746:S158L	S	+	2	0	PDLIM5	95715971	0.998000	0.40836	1.000000	0.80357	0.983000	0.72400	3.413000	0.52686	2.448000	0.82819	0.655000	0.94253	TCA		0.547	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1			12	192	0	0	0	1	0	12	192				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		19	45	0	0	0	1	0	19	45				
USP53	54532	broad.mit.edu	37	4	120169968	120169968	+	Silent	SNP	T	T	C			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr4:120169968T>C	ENST00000274030.6	+	7	1482	c.303T>C	c.(301-303)gcT>gcC	p.A101A	USP53_ENST00000450251.1_Silent_p.A101A	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TAAGGCATGCTCTTGCAGAAA	0.408																																						ENST00000450251.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						c.(301-303)gcT>gcC		ubiquitin specific peptidase 53							208.0	183.0	191.0					4																	120169968		1919	4135	6054	SO:0001819	synonymous_variant	54532				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr4:120169968T>C	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.303T>C	4.37:g.120169968T>C						USP53_ENST00000274030.6_Silent_p.A101A	p.A101A			Q70EK8	UBP53_HUMAN			3	847	+			101						Silent	SNP	ENST00000274030.6	37	c.303T>C	CCDS43265.1																																																																																				0.408	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		23	71	0	0	0	1	0	23	71				
CTTNBP2	83992	broad.mit.edu	37	7	117431414	117431414	+	Silent	SNP	T	T	G			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr7:117431414T>G	ENST00000160373.3	-	4	1927	c.1836A>C	c.(1834-1836)ccA>ccC	p.P612P	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	612					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		ATGGTTTTGGTGGCAGCTGAG	0.552																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1834-1836)ccA>ccC		cortactin binding protein 2							61.0	59.0	60.0					7																	117431414		2203	4300	6503	SO:0001819	synonymous_variant	83992							g.chr7:117431414T>G		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1836A>C	7.37:g.117431414T>G							p.P612P	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	4	1927	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		612					O43389|Q7LG11|Q9C0A5	Silent	SNP	ENST00000160373.3	37	c.1836A>C	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	T	7.221	0.597386	0.13875	.	.	ENSG00000077063	ENST00000446636	.	.	.	5.74	4.52	0.55395	.	.	.	.	.	T	0.64271	0.2583	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62886	-0.6759	4	.	.	.	0.2861	12.8524	0.57864	0.0:0.0:0.1358:0.8642	.	.	.	.	P	141	.	.	T	-	1	0	CTTNBP2	117218650	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.758000	0.55220	2.317000	0.78254	0.460000	0.39030	ACC		0.552	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		16	19	0	0	0	1	0	16	19				
PRAF2	11230	broad.mit.edu	37	X	48931598	48931598	+	Silent	SNP	G	G	A			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chrX:48931598G>A	ENST00000376390.4	-	1	132	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L	WDR45_ENST00000465431.1_5'Flank|WDR45_ENST00000553851.1_Intron|PRAF2_ENST00000376386.3_Silent_p.L17L|AF196779.12_ENST00000376358.3_Intron|PRAF2_ENST00000491199.1_5'Flank	NM_007213.1	NP_009144.1	O60831	PRAF2_HUMAN	PRA1 domain family, member 2	17					L-glutamate transport (GO:0015813)|protein transport (GO:0015031)	endosome (GO:0005768)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	8						GCCGACCCCAGAACAAAGTCG	0.632																																						ENST00000376390.4																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(49-51)Ctg>Ttg		PRA1 domain family, member 2							47.0	41.0	43.0					X																	48931598		2201	4297	6498	SO:0001819	synonymous_variant	11230							g.chrX:48931598G>A	BC021213	CCDS14317.1	Xp11.23	2008-02-05	2004-11-15		ENSG00000243279	ENSG00000243279			28911	protein-coding gene	gene with protein product		300840	"""PRA1 domain family 2"""			16481131	Standard	NM_007213		Approved	JM4		O60831	OTTHUMG00000034499	ENST00000376390.4:c.49C>T	X.37:g.48931598G>A						WDR45_ENST00000553851.1_Intron|PRAF2_ENST00000376386.3_Silent_p.L17L|WDR45_ENST00000376358.3_Intron	p.L17L	NM_007213.1	NP_009144.1					1	132	-								B2RD20	Silent	SNP	ENST00000376390.4	37	c.49C>T	CCDS14317.1																																																																																				0.632	PRAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083415.2	NM_007213		6	9	0	0	0	1	0	6	9				
RPS4X	6191	broad.mit.edu	37	X	71493125	71493125	+	Missense_Mutation	SNP	T	T	A			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chrX:71493125T>A	ENST00000316084.6	-	6	751	c.647A>T	c.(646-648)aAc>aTc	p.N216I	RPS4X_ENST00000486733.1_5'UTR	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked	216					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			NS(1)|large_intestine(1)	2	Renal(35;0.156)					GGCAAAGCTGTTGCCATTGGC	0.463																																						ENST00000316084.6																			0				NS(1)|large_intestine(1)	2						c.(646-648)aAc>aTc		ribosomal protein S4, X-linked							70.0	58.0	62.0					X																	71493125		2203	4300	6503	SO:0001583	missense	6191				endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome	g.chrX:71493125T>A		CCDS14418.1	Xq13.1	2011-04-05			ENSG00000198034	ENSG00000198034		"""S ribosomal proteins"""	10424	protein-coding gene	gene with protein product	"""40S ribosomal protein S4, X isoform"", ""ribosomal protein S4X isoform"", ""single-copy abundant mRNA"", ""cell cycle gene 2"""	312760				1795030, 8139551	Standard	NM_001007		Approved	DXS306, CCG2, SCAR, SCR10, FLJ40595, RPS4, S4	uc004ear.3	P62701	OTTHUMG00000021813	ENST00000316084.6:c.647A>T	X.37:g.71493125T>A	ENSP00000362744:p.Asn216Ile					RPS4X_ENST00000486733.1_5'UTR	p.N216I	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN			6	751	-	Renal(35;0.156)		216					P12631|P12750|P27576|P55831|Q14727|Q6IPY4	Missense_Mutation	SNP	ENST00000316084.6	37	c.647A>T	CCDS14418.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.073787	0.76415	.	.	ENSG00000198034	ENST00000316084	D	0.94650	-3.48	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	D	0.95680	0.8595	M	0.86651	2.83	0.80722	D	1	P	0.40909	0.732	P	0.47102	0.537	D	0.95819	0.8848	10	0.87932	D	0	.	11.1003	0.48170	0.0:0.0:0.0:1.0	.	216	P62701	RS4X_HUMAN	I	216	ENSP00000362744:N216I	ENSP00000362744:N216I	N	-	2	0	RPS4X	71409850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.859000	0.86982	1.587000	0.49959	0.486000	0.48141	AAC		0.463	RPS4X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057188.1	NM_001007		9	12	0	0	0	1	0	9	12				
HERC2P2	400322	broad.mit.edu	37	15	23283320	23283320	+	RNA	SNP	C	C	A			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr15:23283320C>A	ENST00000560464.1	-	0	5097									hect domain and RLD 2 pseudogene 2																		CAGCGTGTGCCTTTTCCTTCC	0.453																																						ENST00000560464.1																			0																																																			0							g.chr15:23283320C>A	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23283320C>A														0	5097	-									RNA	SNP	ENST00000560464.1	37																																																																																						0.453	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			9	47	1	0	3.86212e-05	1	4.04316e-05	9	47				
MACF1	23499	broad.mit.edu	37	1	39799059	39799060	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr1:39799059_39799060insG	ENST00000372915.3	+	36	6901_6902	c.6814_6815insG	c.(6814-6816)aggfs	p.R2272fs	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Frame_Shift_Ins_p.R2267fs|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.R707fs|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.R2304fs|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2272					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGATAGTGGCAGGGAAATTTTT	0.391																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(6799-6801)ggafs		microtubule-actin crosslinking factor 1																																				SO:0001589	frameshift_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39799059_39799060insG	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.6817dupG	1.37:g.39799062_39799062dupG	ENSP00000362006:p.Arg2272fs					MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.G2304fs|MACF1_ENST00000372915.3_Frame_Shift_Ins_p.G2272fs|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.G707fs|MACF1_ENST00000361689.2_Intron	p.G2267fs			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	7576_7577	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2272					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Frame_Shift_Ins	INS	ENST00000372915.3	37	c.6799_6800insG																																																																																					0.391	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		22	78						22	78	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237753135	237753135	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr1:237753135G>A	ENST00000366574.2	+	30	3958	c.3641G>A	c.(3640-3642)aGg>aAg	p.R1214K	RYR2_ENST00000542537.1_Missense_Mutation_p.R1198K|RYR2_ENST00000360064.6_Missense_Mutation_p.R1212K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1214	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAAGTGGGTAGGATGAACTTT	0.388																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(3640-3642)aGg>aAg		ryanodine receptor 2 (cardiac)							98.0	94.0	95.0					1																	237753135		1903	4127	6030	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237753135G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3641G>A	1.37:g.237753135G>A	ENSP00000355533:p.Arg1214Lys					RYR2_ENST00000542537.1_Missense_Mutation_p.R1198K|RYR2_ENST00000360064.6_Missense_Mutation_p.R1212K	p.R1214K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		30	3958	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1214			4 X approximate repeats.|B30.2/SPRY 2.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3641G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	g	22.5	4.302826	0.81136	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.69685	-0.42;-0.42;-0.42	5.49	5.49	0.81192	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000002	T	0.70168	0.3193	M	0.74467	2.265	0.80722	D	1	B	0.20164	0.042	B	0.25506	0.061	T	0.66296	-0.5959	10	0.35671	T	0.21	.	19.3668	0.94466	0.0:0.0:1.0:0.0	.	1214	Q92736	RYR2_HUMAN	K	1214;1212;1198	ENSP00000355533:R1214K;ENSP00000353174:R1212K;ENSP00000443798:R1198K	ENSP00000353174:R1212K	R	+	2	0	RYR2	235819758	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.804000	0.99143	2.564000	0.86499	0.650000	0.86243	AGG		0.388	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		10	35	0	0	0	1	0	10	35				
CCDC85A	114800	broad.mit.edu	37	2	56570085	56570085	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr2:56570085delC	ENST00000407595.2	+	3	1814	c.1312delC	c.(1312-1314)cccfs	p.P438fs	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	438										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCGCATGCTGCCCCAGGTGGG	0.388																																						ENST00000407595.2																			0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(1312-1314)ccfs		coiled-coil domain containing 85A							55.0	59.0	58.0					2																	56570085		1893	4108	6001	SO:0001589	frameshift_variant	114800							g.chr2:56570085delC	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.1312delC	2.37:g.56570085delC	ENSP00000384040:p.Pro438fs					RP11-482H16.1_ENST00000607540.1_RNA	p.P438fs	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		3	1814	+			438						Frame_Shift_Del	DEL	ENST00000407595.2	37	c.1312delC	CCDS46290.1																																																																																				0.388	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			2	4						2	4	---	---	---	---
CRIPAK	285464	broad.mit.edu	37	4	1389084	1389085	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr4:1389084_1389085delCA	ENST00000324803.4	+	1	3745_3746	c.785_786delCA	c.(784-786)tcafs	p.S262fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	262					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCCGCCTGCTCACACGTGCCCA	0.693																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(784-786)tfs		cysteine-rich PAK1 inhibitor																																				SO:0001589	frameshift_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389084_1389085delCA	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.785_786delCA	4.37:g.1389086_1389087delCA	ENSP00000323978:p.Ser262fs						p.S262fs	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3745_3746	+			262					Q8NB03	Frame_Shift_Del	DEL	ENST00000324803.4	37	c.785_786delCA	CCDS3349.1																																																																																				0.693	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		10	394						10	394	---	---	---	---
TG	7038	broad.mit.edu	37	8	133935598	133935600	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr8:133935598_133935600delAGA	ENST00000220616.4	+	22	4584_4586	c.4544_4546delAGA	c.(4543-4548)cagagg>cgg	p.Q1515del	TG_ENST00000542445.1_5'UTR|TG_ENST00000377869.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1515	Thyroglobulin type-1 11. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACTGACTGTCAGAGGAACGAAGC	0.562																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(4543-4548)cgg>c		thyroglobulin																																				SO:0001651	inframe_deletion	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133935598_133935600delAGA	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4544_4546delAGA	8.37:g.133935598_133935600delAGA	ENSP00000220616:p.Gln1515del					TG_ENST00000542445.1_5'UTR|TG_ENST00000377869.1_Intron	p.QR1515del	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	22	4584_4586	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1515			Thyroglobulin type-1 11.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	In_Frame_Del	DEL	ENST00000220616.4	37	c.4544_4546delAGA	CCDS34944.1																																																																																				0.562	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		8	45						8	45	---	---	---	---
MUC6	4588	broad.mit.edu	37	11	1017661	1017663	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr11:1017661_1017663delTGT	ENST00000421673.2	-	31	5188_5190	c.5138_5140delACA	c.(5137-5142)aacatc>atc	p.N1713del		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1713	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTGGGGGTGATGTTGGTGGTAGA	0.527																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(5137-5142)atc>a		mucin 6, oligomeric mucus/gel-forming																																				SO:0001651	inframe_deletion	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1017661_1017663delTGT	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5138_5140delACA	11.37:g.1017661_1017663delTGT	ENSP00000406861:p.Asn1713del						p.NI1713del	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	5188_5190	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1713			Approximate repeats.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	In_Frame_Del	DEL	ENST00000421673.2	37	c.5138_5140delACA	CCDS44513.1																																																																																				0.527	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		8	822						8	822	---	---	---	---
PRB2	653247	broad.mit.edu	37	12	11546506	11546508	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr12:11546506_11546508delTTG	ENST00000389362.4	-	3	539_541	c.504_506delCAA	c.(502-507)aacaag>aag	p.N168del	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	168	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTCGGGACTTGTTGTCTCCTT	0.596																																						ENST00000389362.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(502-507)aag>aa		proline-rich protein BstNI subfamily 2																																				SO:0001651	inframe_deletion	653247							g.chr12:11546506_11546508delTTG	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.504_506delCAA	12.37:g.11546509_11546511delTTG	ENSP00000374013:p.Asn168del					PRB1_ENST00000546254.1_Intron	p.NK168del	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	539_541	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	In_Frame_Del	DEL	ENST00000389362.4	37	c.504_506delCAA	CCDS41757.2																																																																																				0.596	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		7	562						7	562	---	---	---	---
KRT1	3848	broad.mit.edu	37	12	53069236	53069256	+	In_Frame_Del	DEL	TAGCTGCTACCTCCGGAGCCA	TAGCTGCTACCTCCGGAGCCA	-	rs371843007|rs77846840|rs540699806|rs267607656	byFrequency	TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENST00000252244.3	-	9	1714_1734	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	c.(1654-1677)tatggctccggaggtagcagctac>tac	p.552_559YGSGGSSY>Y		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	552	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.S557_G563delSSYGSGG(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tccggagccgtagctgctacctccggagccatagctgccac	0.688																																						ENST00000252244.3																			3	Deletion - In frame(3)	p.S557_G563delSSYGSGG(3)	prostate(2)|central_nervous_system(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						c.(1654-1677)tac>ta		keratin 1				1239,2109		396,447,831				http://www.ncbi.nlm.nih.gov/sites/varvu?gene		-4.4	0.0		dbSNP_129	4	2732,4060		826,1080,1490	no	coding	KRT1	NM_006121.3		1222,1527,2321	A1A1,A1R,RR		40.2238,37.0072,39.1617				3971,6169				SO:0001651	inframe_deletion	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	12.37:g.53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENSP00000252244:p.Tyr552_Ser558del						p.YGSGGSSY552del	NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN			9	1714_1734	-			552			Gly/Ser-rich.|Tail.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	In_Frame_Del	DEL	ENST00000252244.3	37	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	CCDS8836.1																																																																																				0.688	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		6	8						6	8	---	---	---	---
ZFC3H1	196441	broad.mit.edu	37	12	72057256	72057258	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr12:72057256_72057258delGCT	ENST00000378743.3	-	1	491_493	c.133_135delAGC	c.(133-135)agcdel	p.S45del	THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del|ZFC3H1_ENST00000549407.1_5'Flank|ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del|THAP2_ENST00000547843.1_5'Flank	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	45	Ser-rich.				RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCCCGCCGCCGCTGCTGCTGCTG	0.631											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(133-135)del		zinc finger, C3H1-type containing				2,34,3866		0,0,2,4,26,1919						4.0	1.0			58	1,83,7932		0,0,1,9,65,3933	no	codingComplex	ZFC3H1	NM_144982.4		0,0,3,13,91,5852	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0479,0.9226,1.0069				3,117,11798				SO:0001651	inframe_deletion	196441				RNA processing	intracellular	metal ion binding	g.chr12:72057256_72057258delGCT	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.133_135delAGC	12.37:g.72057265_72057267delGCT	ENSP00000368017:p.Ser45del		OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1134	THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del|ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del	p.S45del	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			1	491_493	-			45			Ser-rich.		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	In_Frame_Del	DEL	ENST00000378743.3	37	c.133_135delAGC	CCDS41813.1																																																																																				0.631	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		8	167						8	167	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAG	rs10902490|rs113304321|rs528214697	byFrequency	TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr12:132547093_132547094insCAG	ENST00000333577.4	+	48	8398_8399	c.8289_8290insCAG	c.(8290-8292)cag>CAGcag	p.2764_2764Q>QQ	EP400_ENST00000330386.6_In_Frame_Ins_p.2647_2647Q>QQ|EP400_ENST00000332482.4_In_Frame_Ins_p.2691_2691Q>QQ|EP400_ENST00000389561.2_In_Frame_Ins_p.2728_2728Q>QQ|EP400_ENST00000389562.2_In_Frame_Ins_p.2727_2727Q>QQ			Q96L91	EP400_HUMAN	E1A binding protein p400	2764	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagca	0.564														1869	0.373203	0.3427	0.513	5008	,	,		15674	0.2391		0.4722	False		,,,				2504	0.3517					ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8292)caagca>caCAGagca		E1A binding protein p400																																				SO:0001652	inframe_insertion	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093_132547094insCAG	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8329_8331dupCAG	12.37:g.132547100_132547102dupCAG	ENSP00000333602:p.Gln2784dup					EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR	p.2763_2763Q>HR			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398_8399	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	In_Frame_Ins	INS	ENST00000333577.4	37	c.8289_8290insCAG																																																																																					0.564	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		9	56						9	56	---	---	---	---
TRAV24	28659	broad.mit.edu	37	14	22573824	22573825	+	RNA	INS	-	-	A	rs33991650|rs112427980|rs535957758|rs11408894	byFrequency	TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr14:22573824_22573825insA	ENST00000390453.1	+	0	55									T cell receptor alpha variable 24																		TGACTCTTTTTTAAAAAAACAG	0.45													?|-|A|unsure	1610	0.321486	0.2284	0.3646	5008	,	,		20477	0.4028		0.3171	False		,,,				2504	0.3374					ENST00000390453.1																			0																	859,2725		120,619,1053						4.0	0.0		dbSNP_126	26	2428,5448		380,1668,1890	no	intergenic				500,2287,2943	A1A1,A1R,RR		30.8278,23.9676,28.6824				3287,8173						0							g.chr14:22573824_22573825insA	AE000660		14q11.2	2012-02-07			ENSG00000211805	ENSG00000211805		"""T cell receptors / TRA locus"""	12121	other	T cell receptor gene						12594262, 8188290	Standard	NG_001332		Approved				OTTHUMG00000170652		14.37:g.22573824_22573825insA														0	55	+									RNA	INS	ENST00000390453.1	37																																																																																						0.450	TRAV24-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409900.1	NG_001332		8	7						8	7	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25481200	25481201	+	RNA	INS	-	-	T	rs553888421|rs372124317|rs561626775		TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr15:25481200_25481201insT	ENST00000453082.2	+	0	1934				SNORD115-37_ENST00000363768.1_RNA|SNORD115-35_ENST00000365122.1_RNA|SNORD115-36_ENST00000365629.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		TCCACTGGAAGTTTTTTTTGCG	0.51																																						ENST00000453082.2																			0																																																			0							g.chr15:25481200_25481201insT			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25481208_25481208dupT								NR_003343.1						0	1934	+									RNA	INS	ENST00000453082.2	37																																																																																						0.510	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			7	247						7	247	---	---	---	---
SMPD3	55512	broad.mit.edu	37	16	68397725	68397725	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr16:68397725delC	ENST00000219334.5	-	6	2203	c.1600delG	c.(1600-1602)gacfs	p.D534fs	SMPD3_ENST00000566009.1_5'Flank|SMPD3_ENST00000563226.1_Frame_Shift_Del_p.D534fs|SMPD3_ENST00000568373.1_Frame_Shift_Del_p.D534fs	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	534					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CGGCAGGGGTCCCTGTAGTGG	0.672																																						ENST00000219334.5																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1600-1602)acfs		sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	Phosphatidylserine(DB00144)						54.0	39.0	44.0					16																	68397725		2190	4289	6479	SO:0001589	frameshift_variant	55512				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	g.chr16:68397725delC	AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.1600delG	16.37:g.68397725delC	ENSP00000219334:p.Asp534fs					SMPD3_ENST00000563226.1_Frame_Shift_Del_p.D534fs|SMPD3_ENST00000568373.1_Frame_Shift_Del_p.D534fs	p.D534fs	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	6	2203	-		Ovarian(137;0.0563)	534					B7ZL82|Q2M1S8	Frame_Shift_Del	DEL	ENST00000219334.5	37	c.1600delG	CCDS10867.1																																																																																				0.672	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268895.3	NM_018667		2	4						2	4	---	---	---	---
GAS8	2622	broad.mit.edu	37	16	90095597	90095598	+	Intron	INS	-	-	GGGGCAGCCTACGGGGCAGGCTGC	rs61118444|rs141303781|rs71137702	byFrequency	TCGA-DE-A4MD-06A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d294b023-c938-4b6e-8520-014132590676	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr16:90095597_90095598insGGGGCAGCCTACGGGGCAGGCTGC	ENST00000268699.4	+	2	212				C16orf3_ENST00000408886.2_In_Frame_Ins_p.50_51insPAACPVGC|GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		gggcaggctatggggcagccta	0.663																																						ENST00000408886.2																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(151-156)cctagc>ccGCAGCCTGCCCCGTAGGCTGCCCCtagc		chromosome 16 open reading frame 3																																				SO:0001627	intron_variant	750							g.chr16:90095597_90095598insGGGGCAGCCTACGGGGCAGGCTGC	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.90+1467->GGGGCAGCCTACGGGGCAGGCTGC	16.37:g.90095597_90095598insGGGGCAGCCTACGGGGCAGGCTGC						GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron|GAS8_ENST00000268699.4_Intron	p.50_51insPQPAP*AA	NM_001214.3	NP_001205.3	O95177	CP003_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	1	711_712	-		all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239)	50		Missing (in short isoform).			B2RCT1|B7Z4U1|G3V1L5|Q2M234	In_Frame_Ins	INS	ENST00000268699.4	37	c.153_154insGCAGCCTGCCCCGTAGGCTGCCCC	CCDS10992.1																																																																																				0.663	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			9	20						9	20	---	---	---	---
