#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
EFEMP2	30008	broad.mit.edu	37	11	65636030	65636030	+	Silent	SNP	G	G	A			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr11:65636030G>A	ENST00000307998.6	-	8	1028	c.798C>T	c.(796-798)tcC>tcT	p.S266S	EFEMP2_ENST00000532648.1_5'Flank|EFEMP2_ENST00000528176.1_Silent_p.S266S	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	266	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GGCAGTGGCAGGAGAAACGGC	0.622																																						ENST00000307998.6																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(796-798)tcC>tcT		EGF containing fibulin-like extracellular matrix protein 2							83.0	74.0	77.0					11																	65636030		2201	4296	6497	SO:0001819	synonymous_variant	30008				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	g.chr11:65636030G>A	AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"""Fibulins"""	3219	protein-coding gene	gene with protein product	"""fibulin 4"""	604633	"""EGF-containing fibulin-like extracellular matrix protein 2"""			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.798C>T	11.37:g.65636030G>A						EFEMP2_ENST00000528176.1_Silent_p.S266S	p.S266S	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	8	1028	-			266			EGF-like 5; calcium-binding (Potential).		A8K7R4|B3KM31|B3KQT1|O75967	Silent	SNP	ENST00000307998.6	37	c.798C>T	CCDS8116.1																																																																																				0.622	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938		3	64	0	0	0	0.115264	0	3	64				
ZNF521	25925	broad.mit.edu	37	18	22805082	22805082	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr18:22805082C>T	ENST00000361524.3	-	4	2948	c.2800G>A	c.(2800-2802)Gtg>Atg	p.V934M	ZNF521_ENST00000538137.2_Missense_Mutation_p.V934M|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.V714M	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	934					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CGAGAGCACACGTTGCACTTG	0.507			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(2800-2802)Gtg>Atg		zinc finger protein 521							149.0	139.0	143.0					18																	22805082		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22805082C>T	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2800G>A	18.37:g.22805082C>T	ENSP00000354794:p.Val934Met					ZNF521_ENST00000584787.1_Missense_Mutation_p.V714M|ZNF521_ENST00000538137.2_Missense_Mutation_p.V934M	p.V934M	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	2948	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		934					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.2800G>A	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513941	0.27123	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.30182	1.54;1.54	5.97	5.97	0.96955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.52141	0.1716	M	0.69185	2.1	0.38692	D	0.952789	D	0.76494	0.999	D	0.68765	0.96	T	0.54337	-0.8309	10	0.56958	D	0.05	-25.5564	13.6013	0.62020	0.0:0.9294:0.0:0.0706	.	934	Q96K83	ZN521_HUMAN	M	934;968;934	ENSP00000354794:V934M;ENSP00000382352:V934M	ENSP00000354794:V934M	V	-	1	0	ZNF521	21059080	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.828000	0.97474	0.655000	0.94253	GTG		0.507	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		22	106	0	0	0	0.667858	0	22	106				
DLGAP4	22839	broad.mit.edu	37	20	35125295	35125295	+	Silent	SNP	G	G	A			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr20:35125295G>A	ENST00000373907.2	+	7	2035	c.1836G>A	c.(1834-1836)ctG>ctA	p.L612L	DLGAP4_ENST00000340491.4_Silent_p.L73L|DLGAP4_ENST00000373913.3_Silent_p.L612L|DLGAP4_ENST00000339266.5_Silent_p.L612L|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000401952.2_Silent_p.L612L			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	612					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CGGACAGCCTGGACAGCAGTA	0.632																																						ENST00000373913.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(1834-1836)ctG>ctA		discs, large (Drosophila) homolog-associated protein 4							91.0	80.0	84.0					20																	35125295		2203	4300	6503	SO:0001819	synonymous_variant	22839				cell-cell signaling	membrane	protein binding	g.chr20:35125295G>A	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.1836G>A	20.37:g.35125295G>A						DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000340491.4_Silent_p.L73L|DLGAP4_ENST00000401952.2_Silent_p.L612L|DLGAP4_ENST00000339266.5_Silent_p.L612L|DLGAP4_ENST00000373907.2_Silent_p.L612L	p.L612L			Q9Y2H0	DLGP4_HUMAN			8	2316	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	612					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Silent	SNP	ENST00000373907.2	37	c.1836G>A																																																																																					0.632	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		3	96	0	0	0	0.115264	0	3	96				
GALNT12	79695	broad.mit.edu	37	9	101597558	101597558	+	Silent	SNP	T	T	C			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr9:101597558T>C	ENST00000375011.3	+	5	945	c.945T>C	c.(943-945)ttT>ttC	p.F315F		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	315	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				GTGGGCTGTTTGCTGTGAGTA	0.393																																						ENST00000375011.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(943-945)ttT>ttC		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)							146.0	154.0	151.0					9																	101597558		2203	4300	6503	SO:0001819	synonymous_variant	79695					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr9:101597558T>C	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19877	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 12"""	610290	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"""			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.945T>C	9.37:g.101597558T>C							p.F315F	NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN			5	945	+		Acute lymphoblastic leukemia(62;0.0559)	315			Catalytic subdomain B.		Q5TCF7|Q8NG54|Q96CT9|Q9H771	Silent	SNP	ENST00000375011.3	37	c.945T>C	CCDS6737.1																																																																																				0.393	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642		75	76	0	0	0	0.870114	0	75	76				
ITGA8	8516	broad.mit.edu	37	10	15655758	15655758	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr10:15655758G>A	ENST00000378076.3	-	15	1807	c.1454C>T	c.(1453-1455)cCg>cTg	p.P485L		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	485					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AGTCACAACCGGTCTTGCTCT	0.463																																						ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(1453-1455)cCg>cTg		integrin, alpha 8							91.0	92.0	92.0					10																	15655758		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15655758G>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1454C>T	10.37:g.15655758G>A	ENSP00000367316:p.Pro485Leu						p.P485L	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			15	1807	-			485					B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.1454C>T	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604699	0.66445	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.79749	-1.3	5.23	5.23	0.72850	Integrin alpha-2 (1);	0.049578	0.85682	D	0.000000	D	0.90710	0.7085	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70227	0.946;0.968	D	0.92321	0.5866	10	0.87932	D	0	.	16.995	0.86365	0.0:0.0:1.0:0.0	.	470;485	F5H818;P53708	.;ITA8_HUMAN	L	485;470	ENSP00000367316:P485L	ENSP00000367316:P485L	P	-	2	0	ITGA8	15695764	1.000000	0.71417	0.888000	0.34837	0.492000	0.33523	6.780000	0.75063	2.443000	0.82685	0.467000	0.42956	CCG		0.463	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		3	102	0	0	0	0.115264	0	3	102				
ABCA1	19	broad.mit.edu	37	9	107562200	107562200	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr9:107562200G>A	ENST00000374736.3	-	36	5237	c.4843C>T	c.(4843-4845)Cgg>Tgg	p.R1615W		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1615			R -> Q (associated with reduced plasma HDL cholesterol). {ECO:0000269|PubMed:15297675}.		apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AGGTTGGCCCGGAGAATGGCA	0.468																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(4843-4845)Cgg>Tgg		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						136.0	123.0	127.0					9																	107562200		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107562200G>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.4843C>T	9.37:g.107562200G>A	ENSP00000363868:p.Arg1615Trp						p.R1615W	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	36	5237	-			1615		R -> Q (associated with reduced plasma HDL cholesterol).			Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.4843C>T	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813914	0.90790	.	.	ENSG00000165029	ENST00000374736	D	0.88354	-2.37	5.78	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.89849	0.6834	M	0.66939	2.045	0.80722	D	1	P	0.51653	0.947	P	0.46659	0.523	D	0.91231	0.5014	10	0.87932	D	0	.	16.8066	0.85707	0.0:0.0:0.871:0.129	.	1615	O95477	ABCA1_HUMAN	W	1615	ENSP00000363868:R1615W	ENSP00000363868:R1615W	R	-	1	2	ABCA1	106602021	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.567000	0.73983	2.894000	0.99253	0.655000	0.94253	CGG		0.468	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		3	121	0	0	0	0.115264	0	3	121				
GBP2	2634	broad.mit.edu	37	1	89579760	89579760	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr1:89579760A>G	ENST00000370466.3	-	7	1356	c.1088T>C	c.(1087-1089)aTt>aCt	p.I363T	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	363					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		GAAGACTTCAATGGCCTCTCT	0.493																																						ENST00000370466.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20						c.(1087-1089)aTt>aCt		guanylate binding protein 2, interferon-inducible							126.0	124.0	125.0					1																	89579760		2203	4300	6503	SO:0001583	missense	2634				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89579760A>G	BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.1088T>C	1.37:g.89579760A>G	ENSP00000359497:p.Ile363Thr					GBP2_ENST00000463660.1_5'UTR	p.I363T	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN		all cancers(265;0.0151)|Epithelial(280;0.0284)	7	1356	-		Lung NSC(277;0.0908)	363					Q6GPH0|Q6IAU2|Q86TB0	Missense_Mutation	SNP	ENST00000370466.3	37	c.1088T>C	CCDS719.1	.	.	.	.	.	.	.	.	.	.	A	12.14	1.849324	0.32699	.	.	ENSG00000162645	ENST00000370466	T	0.02498	4.27	3.85	-1.68	0.08212	Guanylate-binding protein, C-terminal (3);	0.213930	0.29684	U	0.011471	T	0.01800	0.0057	L	0.55103	1.725	0.09310	N	1	P	0.43392	0.805	P	0.51415	0.669	T	0.41734	-0.9492	10	0.42905	T	0.14	-17.4424	5.0524	0.14514	0.4357:0.1704:0.3939:0.0	.	363	P32456	GBP2_HUMAN	T	363	ENSP00000359497:I363T	ENSP00000359497:I363T	I	-	2	0	GBP2	89352348	0.572000	0.26668	0.009000	0.14445	0.815000	0.46073	2.093000	0.41710	-0.446000	0.07149	-0.379000	0.06801	ATT		0.493	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	NM_004120		42	108	0	0	0	0.870114	0	42	108				
WDR59	79726	broad.mit.edu	37	16	74990380	74990380	+	Missense_Mutation	SNP	G	G	A	rs553308888		TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr16:74990380G>A	ENST00000262144.6	-	3	363	c.233C>T	c.(232-234)gCg>gTg	p.A78V	WDR59_ENST00000562331.1_5'UTR	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	78										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CACCGAAGCCGCAAAATAGTG	0.488																																						ENST00000262144.6																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						c.(232-234)gCg>gTg		WD repeat domain 59							88.0	79.0	82.0					16																	74990380		2198	4300	6498	SO:0001583	missense	79726							g.chr16:74990380G>A	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.233C>T	16.37:g.74990380G>A	ENSP00000262144:p.Ala78Val					WDR59_ENST00000562331.1_5'UTR	p.A78V	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN			3	363	-			78					B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	ENST00000262144.6	37	c.233C>T	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939463	0.92526	.	.	ENSG00000103091	ENST00000262144;ENST00000536050	T	0.69175	-0.38	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70064	0.3181	N	0.16862	0.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.986	T	0.62272	-0.6889	10	0.11794	T	0.64	-14.4303	20.8794	0.99867	0.0:0.0:1.0:0.0	.	78;78	Q6PJI9-2;Q6PJI9	.;WDR59_HUMAN	V	78;57	ENSP00000262144:A78V	ENSP00000262144:A78V	A	-	2	0	WDR59	73547881	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.410000	0.97335	2.941000	0.99782	0.655000	0.94253	GCG		0.488	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		3	78	0	0	0	0.115264	0	3	78				
GTPBP1	9567	broad.mit.edu	37	22	39112749	39112749	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr22:39112749G>A	ENST00000216044.5	+	4	811	c.578G>A	c.(577-579)cGc>cAc	p.R193H		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	193	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.R193H(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					GGCTTTGCCCGCCAGAAACTC	0.557																																						ENST00000216044.5																			1	Substitution - Missense(1)	p.R193H(1)	lung(1)	endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18						c.(577-579)cGc>cAc		GTP binding protein 1							57.0	55.0	56.0					22																	39112749		2203	4300	6503	SO:0001583	missense	9567				immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity	g.chr22:39112749G>A	U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.578G>A	22.37:g.39112749G>A	ENSP00000216044:p.Arg193His						p.R193H	NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN			4	811	+	Melanoma(58;0.04)		193					Q6IC67	Missense_Mutation	SNP	ENST00000216044.5	37	c.578G>A	CCDS13977.2	.	.	.	.	.	.	.	.	.	.	G	34	5.341713	0.95783	.	.	ENSG00000100226	ENST00000216044;ENST00000484657	T;T	0.70986	-0.53;-0.53	5.25	5.25	0.73442	Protein synthesis factor, GTP-binding (1);	0.053428	0.85682	D	0.000000	D	0.90120	0.6913	H	0.97214	3.96	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	D	0.93653	0.6975	10	0.87932	D	0	.	18.8294	0.92132	0.0:0.0:1.0:0.0	.	193	O00178	GTPB1_HUMAN	H	193;112	ENSP00000216044:R193H;ENSP00000442881:R112H	ENSP00000216044:R193H	R	+	2	0	GTPBP1	37442695	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.747000	0.98863	2.436000	0.82500	0.551000	0.68910	CGC		0.557	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075532.1	NM_004286		3	55	0	0	0	0.115264	0	3	55				
VDAC1	7416	broad.mit.edu	37	5	133311612	133311612	+	Missense_Mutation	SNP	G	G	A	rs375779223		TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr5:133311612G>A	ENST00000265333.3	-	7	896	c.652C>T	c.(652-654)Cgc>Tgc	p.R218C	VDAC1_ENST00000395044.3_Missense_Mutation_p.R218C|VDAC1_ENST00000395047.2_Missense_Mutation_p.R218C	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	218					anion transport (GO:0006820)|apoptotic process (GO:0006915)|behavioral fear response (GO:0001662)|epithelial cell differentiation (GO:0030855)|learning (GO:0007612)|neuron-neuron synaptic transmission (GO:0007270)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein kinase binding (GO:0019901)|voltage-gated anion channel activity (GO:0008308)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	ATTCCGAAGCGCGTGTTACTG	0.522																																					NSCLC(127;1776 1806 35523 41489 48154)	ENST00000265333.3																			0				endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(652-654)Cgc>Tgc		voltage-dependent anion channel 1	Dihydroxyaluminium(DB01375)	G	CYS/ARG	0,4406		0,0,2203	163.0	156.0	159.0		652	5.4	1.0	5		159	1,8595	1.2+/-3.3	0,1,4297	no	missense	VDAC1	NM_003374.2	180	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign	218/284	133311612	1,13001	2203	4298	6501	SO:0001583	missense	7416				apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity	g.chr5:133311612G>A		CCDS4168.1	5q31	2011-11-15			ENSG00000213585	ENSG00000213585		"""Voltage-dependent anion channels"""	12669	protein-coding gene	gene with protein product		604492				7517385	Standard	NM_003374		Approved	MGC111064, PORIN	uc003kyr.2	P21796	OTTHUMG00000129118	ENST00000265333.3:c.652C>T	5.37:g.133311612G>A	ENSP00000265333:p.Arg218Cys					VDAC1_ENST00000395044.3_Missense_Mutation_p.R218C|VDAC1_ENST00000395047.2_Missense_Mutation_p.R218C	p.R218C	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		7	896	-			218					B3KVK4|D3DQ93|Q5FVE7|Q9UIQ5|Q9UPL0	Missense_Mutation	SNP	ENST00000265333.3	37	c.652C>T	CCDS4168.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654466	0.67472	0.0	1.16E-4	ENSG00000213585	ENST00000265333;ENST00000395044;ENST00000395047	T;T;T	0.44482	0.92;0.92;0.92	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.33000	0.0848	N	0.16307	0.4	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.12016	-1.0564	10	0.87932	D	0	.	19.5098	0.95137	0.0:0.0:1.0:0.0	.	218	P21796	VDAC1_HUMAN	C	218	ENSP00000265333:R218C;ENSP00000378484:R218C;ENSP00000378487:R218C	ENSP00000265333:R218C	R	-	1	0	VDAC1	133339511	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.832000	0.86757	2.692000	0.91855	0.579000	0.79373	CGC		0.522	VDAC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259208.1			56	215	0	0	0	0.870114	0	56	215				
AP4M1	9179	broad.mit.edu	37	7	99704048	99704048	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr7:99704048C>A	ENST00000359593.4	+	14	1206	c.1048C>A	c.(1048-1050)Cca>Aca	p.P350T	AP4M1_ENST00000421755.1_Missense_Mutation_p.P350T|AP4M1_ENST00000422582.1_Missense_Mutation_p.P222T|AP4M1_ENST00000429084.1_Missense_Mutation_p.P357T	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	350	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCTGAGCAGCCCAGAGCAGAA	0.607																																					Pancreas(174;1182 2812 29595 49511)	ENST00000429084.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17						c.(1069-1071)Cca>Aca		adaptor-related protein complex 4, mu 1 subunit							42.0	46.0	44.0					7																	99704048		2203	4300	6503	SO:0001583	missense	9179				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity	g.chr7:99704048C>A	Y08387	CCDS5685.1	7q22.1	2012-06-29			ENSG00000221838	ENSG00000221838			574	protein-coding gene	gene with protein product	"""mu-adaptin-related protein-2"", ""mu subunit of AP-4"", ""AP-4 adapter complex mu subunit"", ""adaptor-related protein complex AP-4 mu4 subunit"""	602296				9013859, 10066790, 21620353	Standard	NM_004722		Approved	MU-ARP2, MU-4, SPG50	uc003utb.4	O00189	OTTHUMG00000154722	ENST00000359593.4:c.1048C>A	7.37:g.99704048C>A	ENSP00000352603:p.Pro350Thr					AP4M1_ENST00000422582.1_Missense_Mutation_p.P222T|AP4M1_ENST00000359593.4_Missense_Mutation_p.P350T|AP4M1_ENST00000421755.1_Missense_Mutation_p.P350T	p.P357T			O00189	AP4M1_HUMAN			14	1227	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		350			MHD.		D6W5U1|Q8WV65|Q9UHK9	Missense_Mutation	SNP	ENST00000359593.4	37	c.1069C>A	CCDS5685.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332097	0.81801	.	.	ENSG00000221838	ENST00000438383;ENST00000429084;ENST00000359593;ENST00000421755;ENST00000422582;ENST00000450807	T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09	4.81	4.81	0.61882	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.34745	0.0908	L	0.54323	1.7	0.80722	D	1	P;D;P	0.56287	0.816;0.975;0.786	P;P;P	0.54346	0.633;0.749;0.536	T	0.08411	-1.0723	10	0.87932	D	0	-15.5613	15.4139	0.74948	0.0:1.0:0.0:0.0	.	302;357;350	B4DKN7;C9JC87;O00189	.;.;AP4M1_HUMAN	T	282;357;350;350;222;102	ENSP00000401613:P282T;ENSP00000403663:P357T;ENSP00000352603:P350T;ENSP00000412185:P350T;ENSP00000406676:P222T;ENSP00000391585:P102T	ENSP00000352603:P350T	P	+	1	0	AP4M1	99541984	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.202000	0.72131	2.501000	0.84356	0.561000	0.74099	CCA		0.607	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336772.4	NM_004722		3	80	1	0	0.115264	0.115264	0.133855	3	80				
DAAM1	23002	broad.mit.edu	37	14	59797945	59797945	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr14:59797945A>G	ENST00000395125.1	+	13	1602	c.1579A>G	c.(1579-1581)Atc>Gtc	p.I527V	DAAM1_ENST00000351081.1_Missense_Mutation_p.I527V|DAAM1_ENST00000360909.3_Missense_Mutation_p.I527V	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	527					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CTGTGCTTCAATCCCAGGTGG	0.502																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(1579-1581)Atc>Gtc		dishevelled associated activator of morphogenesis 1							80.0	84.0	83.0					14																	59797945		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59797945A>G	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.1579A>G	14.37:g.59797945A>G	ENSP00000378557:p.Ile527Val					DAAM1_ENST00000360909.3_Missense_Mutation_p.I527V|DAAM1_ENST00000351081.1_Missense_Mutation_p.I527V	p.I527V	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	13	1602	+			527					Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.1579A>G	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	A	0.190	-1.054264	0.01965	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	D;D;D	0.89875	-2.58;-2.58;-2.58	6.16	-9.04	0.00734	.	0.924034	0.09410	N	0.805961	T	0.69646	0.3134	N	0.03238	-0.38	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.59537	-0.7436	10	0.12766	T	0.61	.	13.8569	0.63534	0.6673:0.0888:0.2439:0.0	.	527;527	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	V	527	ENSP00000354162:I527V;ENSP00000247170:I527V;ENSP00000378557:I527V	ENSP00000247170:I527V	I	+	1	0	DAAM1	58867698	0.000000	0.05858	0.001000	0.08648	0.342000	0.28953	-0.873000	0.04214	-2.834000	0.00338	-2.125000	0.00346	ATC		0.502	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		17	179	0	0	0	0.500413	0	17	179				
ZW10	9183	broad.mit.edu	37	11	113631247	113631247	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr11:113631247C>A	ENST00000200135.3	-	4	552	c.408G>T	c.(406-408)caG>caT	p.Q136H		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	136	Interaction with RINT1.				ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		CTTCCAGACGCTGAGCACCAG	0.323																																						ENST00000200135.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18						c.(406-408)caG>caT		zw10 kinetochore protein							178.0	177.0	177.0					11																	113631247		2201	4296	6497	SO:0001583	missense	9183				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	g.chr11:113631247C>A	U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.408G>T	11.37:g.113631247C>A	ENSP00000200135:p.Gln136His						p.Q136H	NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)	4	552	-		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	136			Interaction with RINT1.		A1A528	Missense_Mutation	SNP	ENST00000200135.3	37	c.408G>T	CCDS8363.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213841	0.39102	.	.	ENSG00000086827	ENST00000200135	T	0.43688	0.94	5.19	2.18	0.27775	.	0.490903	0.24554	N	0.037526	T	0.40473	0.1118	L	0.44542	1.39	0.21915	N	0.999475	B	0.30361	0.277	B	0.43478	0.421	T	0.35773	-0.9775	10	0.41790	T	0.15	-0.0167	7.1591	0.25654	0.0:0.5868:0.2735:0.1397	.	136	O43264	ZW10_HUMAN	H	136	ENSP00000200135:Q136H	ENSP00000200135:Q136H	Q	-	3	2	ZW10	113136457	0.692000	0.27719	0.498000	0.27564	0.880000	0.50808	0.272000	0.18644	0.732000	0.32470	0.484000	0.47621	CAG		0.323	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		81	223	1	0	7.0969e-38	0.870114	8.80995e-38	81	223				
TCHP	84260	broad.mit.edu	37	12	110353299	110353299	+	Missense_Mutation	SNP	C	C	G			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr12:110353299C>G	ENST00000312777.5	+	12	1626	c.1412C>G	c.(1411-1413)gCc>gGc	p.A471G	TCHP_ENST00000405876.4_Missense_Mutation_p.A471G	NM_032300.4	NP_115676.1			trichoplein, keratin filament binding											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						CTCTCAGATGCCCTGCTGCAG	0.637																																						ENST00000312777.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						c.(1411-1413)gCc>gGc		trichoplein, keratin filament binding							34.0	34.0	34.0					12																	110353299		2203	4300	6503	SO:0001583	missense	84260				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding	g.chr12:110353299C>G	AK092736	CCDS9137.1	12q24.11	2011-08-25	2006-01-27			ENSG00000139437			28135	protein-coding gene	gene with protein product	"""mitostatin"""	612654				15731013, 20930847	Standard	NM_032300		Approved	MGC10854, TpMs	uc001tpn.3	Q9BT92		ENST00000312777.5:c.1412C>G	12.37:g.110353299C>G	ENSP00000324404:p.Ala471Gly					TCHP_ENST00000405876.4_Missense_Mutation_p.A471G	p.A471G	NM_032300.4	NP_115676.1	Q9BT92	TCHP_HUMAN			12	1626	+			471			Glu-rich.|Interaction with keratin proteins.			Missense_Mutation	SNP	ENST00000312777.5	37	c.1412C>G	CCDS9137.1	.	.	.	.	.	.	.	.	.	.	C	9.577	1.122498	0.20877	.	.	ENSG00000139437	ENST00000405876;ENST00000312777;ENST00000551627	T;T	0.11495	2.77;2.77	5.84	4.88	0.63580	.	0.628147	0.15755	N	0.246260	T	0.12689	0.0308	L	0.57536	1.79	0.09310	N	1	B	0.27625	0.183	B	0.27887	0.084	T	0.07751	-1.0756	10	0.35671	T	0.21	3.0304	10.4624	0.44587	0.2389:0.7611:0.0:0.0	.	471	Q9BT92	TCHP_HUMAN	G	471;471;115	ENSP00000384520:A471G;ENSP00000324404:A471G	ENSP00000324404:A471G	A	+	2	0	TCHP	108837682	0.010000	0.17322	0.131000	0.22000	0.309000	0.27889	2.379000	0.44318	2.763000	0.94921	0.650000	0.86243	GCC		0.637	TCHP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403289.1	NM_032300		25	21	0	0	0	0.729181	0	25	21				
RBL2	5934	broad.mit.edu	37	16	53504454	53504454	+	Missense_Mutation	SNP	C	C	G	rs200383130		TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr16:53504454C>G	ENST00000262133.6	+	16	2542	c.2405C>G	c.(2404-2406)cCt>cGt	p.P802R	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	802	Pocket; binds E1A.|Spacer.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTGCAAGTCCCTGGTCAAGTG	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		16756	0.001		0.0	False		,,,				2504	0.0					ENST00000262133.6																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2404-2406)cCt>cGt		retinoblastoma-like 2 (p130)							82.0	80.0	81.0					16																	53504454		2198	4300	6498	SO:0001583	missense	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53504454C>G	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.2405C>G	16.37:g.53504454C>G	ENSP00000262133:p.Pro802Arg					RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	p.P802R	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN			16	2542	+			802			Pocket; binds E1A.|Spacer.		B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	c.2405C>G	CCDS10748.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	22.2	4.256061	0.80246	.	.	ENSG00000103479	ENST00000262133;ENST00000379935	D	0.91011	-2.77	5.7	5.7	0.88788	.	0.226336	0.45606	D	0.000341	D	0.88894	0.6561	N	0.08118	0	0.80722	D	1	D;P	0.64830	0.994;0.906	P;P	0.56278	0.795;0.621	D	0.91326	0.5086	10	0.72032	D	0.01	-8.073	19.8354	0.96655	0.0:1.0:0.0:0.0	.	512;802	E9PG04;Q08999	.;RBL2_HUMAN	R	802;512	ENSP00000262133:P802R	ENSP00000262133:P802R	P	+	2	0	RBL2	52061955	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	4.180000	0.58296	2.686000	0.91538	0.555000	0.69702	CCT		0.552	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		5	105	0	0	0	0.184627	0	5	105				
RUNDC1	146923	broad.mit.edu	37	17	41141502	41141502	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr17:41141502G>T	ENST00000361677.1	+	3	814	c.802G>T	c.(802-804)Gag>Tag	p.E268*		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	268										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		ACAGTTGGTTGAGCAACTGAA	0.493																																						ENST00000361677.1																			0				breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						c.(802-804)Gag>Tag		RUN domain containing 1							101.0	87.0	92.0					17																	41141502		2203	4300	6503	SO:0001587	stop_gained	146923							g.chr17:41141502G>T	AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.802G>T	17.37:g.41141502G>T	ENSP00000354622:p.Glu268*						p.E268*	NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	3	814	+		Breast(137;0.00499)	268					Q6Y2K8|Q8IXT9|Q8N3W1	Nonsense_Mutation	SNP	ENST00000361677.1	37	c.802G>T	CCDS11448.1	.	.	.	.	.	.	.	.	.	.	G	36	5.870953	0.97049	.	.	ENSG00000198863	ENST00000361677	.	.	.	5.35	5.35	0.76521	.	0.058843	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-28.8877	19.2405	0.93881	0.0:0.0:1.0:0.0	.	.	.	.	X	268	.	ENSP00000354622:E268X	E	+	1	0	RUNDC1	38395028	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.657000	0.98554	2.780000	0.95670	0.655000	0.94253	GAG		0.493	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452464.1	NM_173079		28	85	1	0	2.09667e-21	0.788014	2.516e-21	28	85				
ADPRH	141	broad.mit.edu	37	3	119305412	119305412	+	Silent	SNP	A	A	G			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr3:119305412A>G	ENST00000478399.1	+	3	1984	c.579A>G	c.(577-579)aaA>aaG	p.K193K	ADPRH_ENST00000465513.1_Silent_p.K193K|ADPRH_ENST00000478927.1_Silent_p.K193K|ADPRH_ENST00000357003.3_Silent_p.K193K|ADPRH_ENST00000471850.1_3'UTR			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	193					cellular protein modification process (GO:0006464)|protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		AGTGGGGAAAAGGACTGATGG	0.512																																					GBM(133;579 1804 5989 9967 40052)	ENST00000478399.1																			0				breast(1)|kidney(1)|lung(10)|ovary(1)	13						c.(577-579)aaA>aaG		ADP-ribosylarginine hydrolase							86.0	89.0	88.0					3																	119305412		2203	4300	6503	SO:0001819	synonymous_variant	141				protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	g.chr3:119305412A>G	L13291	CCDS2990.1	3q13.31-q13.33	2004-02-27			ENSG00000144843	ENSG00000144843			269	protein-coding gene	gene with protein product		603081				8349667, 12070318	Standard	NM_001125		Approved	ARH1	uc003ecs.3	P54922	OTTHUMG00000159420	ENST00000478399.1:c.579A>G	3.37:g.119305412A>G						ADPRH_ENST00000357003.3_Silent_p.K193K|ADPRH_ENST00000478927.1_Silent_p.K193K|ADPRH_ENST00000465513.1_Silent_p.K193K|ADPRH_ENST00000471850.1_3'UTR	p.K193K			P54922	ADPRH_HUMAN		GBM - Glioblastoma multiforme(114;0.23)	3	1984	+		Lung NSC(201;0.0977)	193					B2R8H1|D3DN83	Silent	SNP	ENST00000478399.1	37	c.579A>G	CCDS2990.1																																																																																				0.512	ADPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355199.1	NM_001125		3	107	0	0	0	0.115264	0	3	107				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	36	0	0	0	0.150653	0	4	36				
EFCAB1	79645	broad.mit.edu	37	8	49643961	49643961	+	Nonsense_Mutation	SNP	G	G	A	rs201706002		TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr8:49643961G>A	ENST00000262103.3	-	2	240	c.160C>T	c.(160-162)Cga>Tga	p.R54*	EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000523092.1_Intron|EFCAB1_ENST00000433756.1_Intron	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	54							calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				AGGATGTTTCGAAATGCATTA	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		16776	0.001		0.0	False		,,,				2504	0.0					ENST00000262103.3																			0				endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14						c.(160-162)Cga>Tga		EF-hand calcium binding domain 1							127.0	114.0	118.0					8																	49643961		2203	4300	6503	SO:0001587	stop_gained	79645						calcium ion binding	g.chr8:49643961G>A		CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"""EF-hand domain containing"""	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.160C>T	8.37:g.49643961G>A	ENSP00000262103:p.Arg54*					EFCAB1_ENST00000523092.1_Intron|EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000433756.1_Intron	p.R54*	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN			2	240	-		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)	54					B4DSB4|E7EVN7	Nonsense_Mutation	SNP	ENST00000262103.3	37	c.160C>T	CCDS6145.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	32	5.154769	0.94686	.	.	ENSG00000034239	ENST00000262103;ENST00000450553	.	.	.	4.89	1.95	0.26073	.	0.052062	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.917	0.52771	0.0:0.0:0.386:0.614	.	.	.	.	X	54	.	ENSP00000262103:R54X	R	-	1	2	EFCAB1	49806514	1.000000	0.71417	0.985000	0.45067	0.962000	0.63368	1.451000	0.35145	0.285000	0.22329	-0.188000	0.12872	CGA		0.393	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377778.1	NM_024593		29	88	0	0	0	0.740014	0	29	88				
ROBO2	6092	broad.mit.edu	37	3	77623657	77623657	+	Missense_Mutation	SNP	G	G	A	rs565768356		TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr3:77623657G>A	ENST00000461745.1	+	14	2879	c.1979G>A	c.(1978-1980)cGc>cAc	p.R660H	ROBO2_ENST00000332191.8_Missense_Mutation_p.R660H|ROBO2_ENST00000487694.3_Missense_Mutation_p.R676H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	660	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAGGTTGATCGCCAACCCCAG	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		19766	0.001		0.0	False		,,,				2504	0.0					ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(1978-1980)cGc>cAc		roundabout, axon guidance receptor, homolog 2 (Drosophila)							96.0	86.0	89.0					3																	77623657		1917	4108	6025	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77623657G>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1979G>A	3.37:g.77623657G>A	ENSP00000417164:p.Arg660His					ROBO2_ENST00000487694.3_Missense_Mutation_p.R676H|ROBO2_ENST00000332191.8_Missense_Mutation_p.R660H	p.R660H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	14	2879	+			660			Fibronectin type-III 2.		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.1979G>A	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539340	0.65085	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.58060	0.36;0.36;0.36	5.71	5.71	0.89125	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.45867	D	0.000329	T	0.57577	0.2063	M	0.69823	2.125	0.45648	D	0.998574	B;B;P	0.35908	0.327;0.175;0.527	B;B;B	0.36567	0.153;0.174;0.228	T	0.61004	-0.7150	9	0.44086	T	0.13	.	19.8397	0.96678	0.0:0.0:1.0:0.0	.	676;660;660	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	H	676;676;680;660;660;381	ENSP00000417335:R676H;ENSP00000417164:R660H;ENSP00000327536:R660H	ENSP00000327536:R660H	R	+	2	0	ROBO2	77706347	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	9.864000	0.99589	2.685000	0.91497	0.591000	0.81541	CGC		0.423	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		24	48	0	0	0	0.706142	0	24	48				
HOOK3	84376	broad.mit.edu	37	8	42873627	42873627	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr8:42873627G>A	ENST00000307602.4	+	22	2343	c.2143G>A	c.(2143-2145)Gcc>Acc	p.A715T	RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.A21T	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	715	Required for association with Golgi.|Required for interaction with MSR1.				cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			CGTGCAGCCGGCCACAGCAAG	0.537			T	RET	papillary thyroid																																	ENST00000307602.4				Dom	yes		8	8p11.21	84376	T	hook homolog 3			E	RET		papillary thyroid		0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31						c.(2143-2145)Gcc>Acc		hook microtubule-tethering protein 3							71.0	67.0	68.0					8																	42873627		2203	4300	6503	SO:0001583	missense	84376				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding	g.chr8:42873627G>A	AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.2143G>A	8.37:g.42873627G>A	ENSP00000305699:p.Ala715Thr					RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.A21T	p.A715T	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		22	2343	+	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	715			Required for association with Golgi.|Required for interaction with MSR1.		D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	c.2143G>A	CCDS6139.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.845|8.845	0.943158|0.943158	0.18281|0.18281	.|.	.|.	ENSG00000168172;ENSG00000254673|ENSG00000168172	ENST00000307602;ENST00000534420|ENST00000533338	T|.	0.17528|.	2.27|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.093281|.	0.85682|.	D|.	0.000000|.	T|T	0.57533|0.57533	0.2060|0.2060	N|N	0.24115|0.24115	0.695|0.695	0.58432|0.58432	D|D	0.999993|0.999993	B|.	0.24920|.	0.114|.	B|.	0.24701|.	0.055|.	T|T	0.49173|0.49173	-0.8967|-0.8967	10|5	0.09590|.	T|.	0.72|.	-0.224|-0.224	20.422|20.422	0.99049|0.99049	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	715|.	Q86VS8|.	HOOK3_HUMAN|.	T|D	715;21|27	ENSP00000305699:A715T|.	ENSP00000305699:A715T|.	A|G	+|+	1|2	0|0	RP11-598P20.5;HOOK3|HOOK3	42992784|42992784	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.074000|0.074000	0.17049|0.17049	6.365000|6.365000	0.73090|0.73090	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	GCC|GGC		0.537	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		4	129	0	0	0	0.184627	0	4	129				
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G	rs200656321		TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		CGTTGGTGTTTTTGTAGACCA	0.617																																						ENST00000330048.5																			0																																																			0							g.chr16:32890622T>G	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890622T>G								NR_003083.2						0	3176	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.617	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			4	50	0	0	0	0.248553	0	4	50				
CNNM1	26507	broad.mit.edu	37	10	101120670	101120670	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr10:101120670C>T	ENST00000356713.4	+	3	2085	c.1796C>T	c.(1795-1797)aCg>aTg	p.T599M	CNNM1_ENST00000370534.4_Missense_Mutation_p.T234M|CNNM1_ENST00000370528.3_Missense_Mutation_p.T528M|CNNM1_ENST00000446890.1_Missense_Mutation_p.T528M	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	599					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CTTTCGGACACGGAGATGCGG	0.542																																						ENST00000356713.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25						c.(1795-1797)aCg>aTg		cyclin M1							118.0	112.0	114.0					10																	101120670		2203	4300	6503	SO:0001583	missense	26507				ion transport	integral to membrane|plasma membrane		g.chr10:101120670C>T	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.1796C>T	10.37:g.101120670C>T	ENSP00000349147:p.Thr599Met					CNNM1_ENST00000446890.1_Missense_Mutation_p.T528M|CNNM1_ENST00000370534.4_Missense_Mutation_p.T234M|CNNM1_ENST00000370528.3_Missense_Mutation_p.T528M	p.T599M	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)	3	2085	+		Colorectal(252;0.234)	599					Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	37	c.1796C>T	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993324	0.54041	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534;ENST00000545665	D;D;D;T	0.82984	-1.67;-1.66;-1.66;-0.67	5.74	4.82	0.62117	.	0.234551	0.39210	N	0.001424	T	0.79046	0.4380	N	0.24115	0.695	0.27084	N	0.963001	P;D;P;B	0.53312	0.84;0.959;0.919;0.41	B;P;B;B	0.48901	0.255;0.594;0.101;0.202	T	0.74651	-0.3594	10	0.62326	D	0.03	-28.5079	15.0721	0.72046	0.0:0.5648:0.4352:0.0	.	234;599;234;599	F5H5J0;Q9NRU3-2;B7Z5S3;Q9NRU3	.;.;.;CNNM1_HUMAN	M	599;528;528;234;52	ENSP00000349147:T599M;ENSP00000406492:T528M;ENSP00000359559:T528M;ENSP00000359565:T234M	ENSP00000349147:T599M	T	+	2	0	CNNM1	101110660	1.000000	0.71417	0.477000	0.27303	0.911000	0.54048	4.314000	0.59166	1.386000	0.46466	0.655000	0.94253	ACG		0.542	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348		4	121	0	0	0	0.150653	0	4	121				
PHKA1	5255	broad.mit.edu	37	X	71864258	71864258	+	Silent	SNP	G	G	A			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chrX:71864258G>A	ENST00000373542.4	-	14	1572	c.1413C>T	c.(1411-1413)atC>atT	p.I471I	PHKA1_ENST00000339490.3_Silent_p.I471I|PHKA1_ENST00000373539.3_Silent_p.I471I|PHKA1_ENST00000541944.1_Silent_p.I471I|PHKA1_ENST00000373545.3_Silent_p.I471I	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	471					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GTTGTACTCTGATGGGGTATA	0.433																																						ENST00000373545.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1411-1413)atC>atT		phosphorylase kinase, alpha 1 (muscle)							181.0	128.0	146.0					X																	71864258		2203	4300	6503	SO:0001819	synonymous_variant	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71864258G>A		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.1413C>T	X.37:g.71864258G>A						PHKA1_ENST00000541944.1_Silent_p.I471I|PHKA1_ENST00000373539.3_Silent_p.I471I|PHKA1_ENST00000373542.4_Silent_p.I471I|PHKA1_ENST00000339490.3_Silent_p.I471I	p.I471I			P46020	KPB1_HUMAN			14	1851	-	Renal(35;0.156)		471					B7ZL05|B7ZL07|Q2M3D7	Silent	SNP	ENST00000373542.4	37	c.1413C>T	CCDS14421.1																																																																																				0.433	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			18	51	0	0	0	0.575678	0	18	51				
DMC1	11144	broad.mit.edu	37	22	38951410	38951410	+	Silent	SNP	A	A	G			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr22:38951410A>G	ENST00000216024.2	-	6	607	c.331T>C	c.(331-333)Tta>Cta	p.L111L	DMC1_ENST00000428462.2_Silent_p.L111L	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	111					female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome (GO:0005694)|chromosome, telomeric region (GO:0000781)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					CCTCCTAGTAACTTACTGGAA	0.303								Homologous recombination																														ENST00000216024.2																			0				large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(331-333)Tta>Cta	Homologous recombination	DNA meiotic recombinase 1							58.0	60.0	59.0					22																	38951410		2202	4285	6487	SO:0001819	synonymous_variant	11144				reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding	g.chr22:38951410A>G	D63882	CCDS13973.1, CCDS63477.1	22q13.1	2013-05-02	2013-05-02		ENSG00000100206	ENSG00000100206			2927	protein-coding gene	gene with protein product		602721	"""DMC1 (dosage suppressor of mck1, yeast homolog) meiosis-specific homologous recombination"", ""DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)"""			8602360, 8590282, 17541404	Standard	NM_007068		Approved	LIM15	uc003avz.2	Q14565	OTTHUMG00000151088	ENST00000216024.2:c.331T>C	22.37:g.38951410A>G						DMC1_ENST00000428462.2_Silent_p.L111L	p.L111L	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN			6	607	-	Melanoma(58;0.0286)		111					A8K9A2|B4DMW6|Q08AI1|Q99498|Q9UH11	Silent	SNP	ENST00000216024.2	37	c.331T>C	CCDS13973.1																																																																																				0.303	DMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321246.2	NM_007068		4	106	0	0	0	0.184627	0	4	106				
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr7:114270000G>A	ENST00000393494.2	+	5	816	c.537G>A	c.(535-537)caG>caA	p.Q179Q	FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393500.3_Silent_p.Q104Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q204Q(1)	lung(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(310-312)caG>caA		forkhead box P2							41.0	38.0	39.0					7																	114270000		2199	4282	6481	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114270000G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.537G>A	7.37:g.114270000G>A						FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q	p.Q104Q			O15409	FOXP2_HUMAN			11	1132	+			179			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.312G>A	CCDS5760.1																																																																																				0.498	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		3	73	0	0	0	0.115264	0	3	73				
LOC101927209	101927209	broad.mit.edu	37	1	142699941	142699942	+	lincRNA	DEL	TA	TA	-	rs376314079|rs376520780		TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr1:142699941_142699942delTA	ENST00000610091.1	-	0	3130																											GAGGAAACACtatatatatata	0.248																																						ENST00000369381.2																			0																																																			0							g.chr1:142699941_142699942delTA																													1.37:g.142699951_142699952delTA														0	2077	-									RNA	DEL	ENST00000610091.1	37																																																																																						0.248	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			4	3						4	3	---	---	---	---
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937|rs74800608|rs375843790|rs74185804|rs202010288	byFrequency	TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764														5004	0.999201	0.9992	1.0	5008	,	,		2724	1.0		0.999	False		,,,				2504	0.998					ENST00000432424.2																			0				breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18								synapsin II																																						6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12046124_12046126delAGC		CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12046124_12046126delAGC										Q86VA8	Q86VA8_HUMAN			0	245_247	+								A8MY98	RNA	DEL	ENST00000432424.2	37																																																																																						0.764	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3	NM_133625		3	5						3	5	---	---	---	---
RP11-377D9.3	0	broad.mit.edu	37	12	13174142	13174147	+	lincRNA	DEL	AACAAC	AACAAC	-	rs113537246		TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr12:13174142_13174147delAACAAC	ENST00000543321.1	+	0	1025																											ctgtctcaaaaacaacaacaacaaca	0.553																																						ENST00000543321.1																			0																																																			0							g.chr12:13174142_13174147delAACAAC																													12.37:g.13174148_13174153delAACAAC														0	1025	+									RNA	DEL	ENST00000543321.1	37																																																																																						0.553	RP11-377D9.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000401005.1			3	6						3	6	---	---	---	---
R3HDM2	22864	broad.mit.edu	37	12	57674205	57674207	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr12:57674205_57674207delTGC	ENST00000347140.3	-	14	1626_1628	c.1236_1238delGCA	c.(1234-1239)cagcaa>caa	p.412_413QQ>Q	RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000402412.1_In_Frame_Del_p.426_427QQ>Q|R3HDM2_ENST00000441731.2_In_Frame_Del_p.73_74QQ>Q|R3HDM2_ENST00000358907.2_In_Frame_Del_p.412_413QQ>Q|R3HDM2_ENST00000413953.2_In_Frame_Del_p.139_140QQ>Q|R3HDM2_ENST00000403821.2_In_Frame_Del_p.412_413QQ>Q			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	412	Gln-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AGCAGGAAGTtgctgctgctgct	0.576																																						ENST00000402412.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1276-1281)caa>ca		R3H domain containing 2																																				SO:0001651	inframe_deletion	22864					nucleus	nucleic acid binding	g.chr12:57674205_57674207delTGC	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1236_1238delGCA	12.37:g.57674214_57674216delTGC	ENSP00000317903:p.Gln413del					R3HDM2_ENST00000347140.3_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000413953.2_In_Frame_Del_p.QQ139del|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000393811.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000441731.2_In_Frame_Del_p.QQ73del|R3HDM2_ENST00000358907.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000403821.2_In_Frame_Del_p.QQ412del	p.QQ426del			Q9Y2K5	R3HD2_HUMAN			14	1668_1670	-			412			Gln-rich.		Q2M1T9|Q3ZCT5	In_Frame_Del	DEL	ENST00000347140.3	37	c.1278_1280delGCA	CCDS8937.2																																																																																				0.576	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		11	172						11	172	---	---	---	---
SAMD15	161394	broad.mit.edu	37	14	77845094	77845094	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr14:77845094delA	ENST00000216471.4	+	1	1619	c.1333delA	c.(1333-1335)aaafs	p.K445fs	TMED8_ENST00000216468.7_5'Flank|SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	445										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCGTGAGCCTAAAAGAGGAAA	0.383																																						ENST00000216471.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1333-1335)aafs		sterile alpha motif domain containing 15							72.0	69.0	70.0					14																	77845094		2203	4300	6503	SO:0001589	frameshift_variant	161394							g.chr14:77845094delA	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"""Sterile alpha motif (SAM) domain containing"""	18631	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174"""	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.1333delA	14.37:g.77845094delA	ENSP00000216471:p.Lys445fs					SAMD15_ENST00000533095.2_Intron	p.K445fs	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN			1	1619	+			445					Q2M3P3	Frame_Shift_Del	DEL	ENST00000216471.4	37	c.1333delA	CCDS32126.1																																																																																				0.383	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		35	40						35	40	---	---	---	---
C20orf85	128602	broad.mit.edu	37	20	56735727	56735727	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr20:56735727delC	ENST00000371168.3	+	4	324	c.263delC	c.(262-264)tccfs	p.S88fs		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	88										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			GTCTTTCCATCCCCCCCAGTC	0.582																																						ENST00000371168.3																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13						c.(262-264)tcfs		chromosome 20 open reading frame 85							45.0	43.0	43.0					20																	56735727		2203	4300	6503	SO:0001589	frameshift_variant	128602							g.chr20:56735727delC	AL354776	CCDS13465.1	20q13.32	2012-10-29			ENSG00000124237	ENSG00000124237			16216	protein-coding gene	gene with protein product	"""Low in Lung Cancer 1"""						Standard	NM_178456		Approved	bA196N14.1, LLC1	uc002xyv.3	Q9H1P6	OTTHUMG00000032836	ENST00000371168.3:c.263delC	20.37:g.56735727delC	ENSP00000360210:p.Ser88fs						p.S88fs	NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)		4	324	+	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		88						Frame_Shift_Del	DEL	ENST00000371168.3	37	c.263delC	CCDS13465.1																																																																																				0.582	C20orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079866.2	NM_178456		7	82						7	82	---	---	---	---
