#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_Mutation_Status	i_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	G	G	A			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	G	G	G	A	G	G	Verified	Invalid:failed_liftOver	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chrUnknown:0G>A								None (None upstream) : None (None downstream)																								0.0																																						dbGAP											0			MT																																								3919	SO:0001628	intergenic_variant	0																															Unknown.37:g.0G>A		Somatic	246	0.404858299595142	1		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	3919	477	18.8775510204082	111		Silent	SNP	HMMPfam_NADHdh,PatternScan_COMPLEX1_ND1_1,PatternScan_COMPLEX1_ND1_2	p.E204		37	c.612		MT																																																																																			-	HMMPfam_NADHdh,PatternScan_COMPLEX1_ND1_2	0	0					MT-ND1			G			3919	+1	no_errors	ENST00000361390	ensembl	human	known	54_36p	silent	SNP	NULL	A
PHF6	84295	genome.wustl.edu	37	X	133551224	133551224	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chrX:133551224G>T	ENST00000332070.3	+	9	1062	c.860G>T	c.(859-861)gGt>gTt	p.G287V	PHF6_ENST00000370803.3_Missense_Mutation_p.G287V|PHF6_ENST00000416404.2_Missense_Mutation_p.G253V|PHF6_ENST00000394292.1_Missense_Mutation_p.G288V|PHF6_ENST00000370799.1_Missense_Mutation_p.G288V	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	287	Extended PHD2 domain (ePHD2).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|scaffold protein binding (GO:0097110)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.G287V(3)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					AGTCAGCCTGGTGCTACTATT	0.358			"""F, N, Splice, Mis"""		ETP ALL																																Colon(100;666 1493 6344 21231 35807)	dbGAP		Rec	yes		X	Xq26.3	84295	PHD finger protein 6		L	3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	X											119.0	105.0	110.0					X																	133551224		2203	4299	6502	133378890	SO:0001583	missense	0			AB058726	CCDS14639.1, CCDS14640.1	Xq26	2014-09-17			ENSG00000156531	ENSG00000156531		"""Zinc fingers, PHD-type"""	18145	protein-coding gene	gene with protein product	"""centromere protein 31"""	300414	"""Borjeson-Forssman-Lehmann syndrome"""	BFLS, BORJ		12415272, 15466013	Standard	NM_032335		Approved	KIAA1823, MGC14797, CENP-31	uc004exk.3	Q8IWS0	OTTHUMG00000022453	ENST00000332070.3:c.860G>T	X.37:g.133551224G>T	ENSP00000329097:p.Gly287Val	Somatic	449	3.23275862068966	15		0	100.00	37	WXS	Illumina HiSeq	Phase_IV	133378890	22	93.491124260355	316	A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Missense_Mutation	SNP	HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger	p.G287V	ENST00000332070.3	37	c.860	CCDS14639.1	X	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677320	0.88445	.	.	ENSG00000156531	ENST00000370803;ENST00000332070;ENST00000394292;ENST00000370799;ENST00000416404	D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96	5.98	5.98	0.97165	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.94450	0.8214	M	0.92923	3.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.992	D;D;D	0.91635	0.999;0.999;0.929	D	0.95343	0.8440	10	0.87932	D	0	-9.5007	18.1945	0.89817	0.0:0.0:1.0:0.0	.	253;287;288	B4E0G4;Q8IWS0;E9PC97	.;PHF6_HUMAN;.	V	287;287;288;288;253	ENSP00000359839:G287V;ENSP00000329097:G287V;ENSP00000377831:G288V;ENSP00000359835:G288V;ENSP00000394480:G253V	ENSP00000329097:G287V	G	+	2	0	PHF6	133378890	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	9.357000	0.97099	2.521000	0.84997	0.594000	0.82650	GGT	-	HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger		0.358	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHF6	protein_coding	OTTHUMT00000058367.1	G	NM_032458		133378890	+1	no_errors	NM_001015877.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
SV2A	9900	genome.wustl.edu	37	1	149877521	149877521	+	Silent	SNP	G	G	A	rs138258149	byFrequency	TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr1:149877521G>A	ENST00000369146.3	-	12	2446	c.1956C>T	c.(1954-1956)atC>atT	p.I652I	SV2A_ENST00000369145.1_Silent_p.I652I	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	652					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)	p.I652I(3)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AGAGCAGAGCGATCATGGCCG	0.542													G|||	2	0.000399361	0.0008	0.0	5008	,	,		16093	0.001		0.0	False		,,,				2504	0.0					dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	1						G		1,4405	2.1+/-5.4	0,1,2202	141.0	119.0	127.0		1956	-3.7	1.0	1	dbSNP_134	127	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SV2A	NM_014849.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		652/743	149877521	2,13004	2203	4300	6503	148144145	SO:0001819	synonymous_variant	0			AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.1956C>T	1.37:g.149877521G>A		Somatic	4665	1.12	53		46	62.60	77	WXS	Illumina HiSeq	Phase_IV	148144145	849	47.62	772	D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Silent	SNP	PatternScan_SUGAR_TRANSPORT_2,HMMPfam_MFS_1,superfamily_MFS general substrate transporter	p.I652	ENST00000369146.3	37	c.1956	CCDS940.1	1																																																																																			-	HMMPfam_MFS_1,superfamily_MFS general substrate transporter		0.542	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2A	protein_coding	OTTHUMT00000033754.1	G			148144145	-1	no_errors	NM_014849.3	genbank	human	validated	54_36p	silent	SNP	0.996	A
NMNAT2	23057	genome.wustl.edu	37	1	183221856	183221856	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr1:183221856C>T	ENST00000287713.6	-	11	1178	c.844G>A	c.(844-846)Ggc>Agc	p.G282S	NMNAT2_ENST00000294868.4_Missense_Mutation_p.G277S	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	282					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|late endosome (GO:0005770)|synapse (GO:0045202)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)	p.G282S(3)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						ACAACATGGCCGTCCCCATGC	0.582																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	1											136.0	113.0	121.0					1																	183221856		2203	4300	6503	181488479	SO:0001583	missense	0			AF288395	CCDS1353.1, CCDS1354.1	1q25	2008-02-05	2003-04-30	2003-05-02	ENSG00000157064	ENSG00000157064			16789	protein-coding gene	gene with protein product		608701	"""chromosome 1 open reading frame 15"""	C1orf15		11318611, 12359228	Standard	NM_015039		Approved	KIAA0479, PNAT2	uc001gqc.2	Q9BZQ4	OTTHUMG00000035519	ENST00000287713.6:c.844G>A	1.37:g.183221856C>T	ENSP00000287713:p.Gly282Ser	Somatic	1606	0.43	7		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	181488479	741	43.78	577	O75067|Q5T1Q3|Q8WU99|Q96QW1	Missense_Mutation	SNP	HMMPfam_CTP_transf_2,superfamily_Nucleotidylyl transferase	p.G282S	ENST00000287713.6	37	c.844	CCDS1353.1	1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.185821	0.57909	.	.	ENSG00000157064	ENST00000287713;ENST00000294868	D;D	0.97186	-4.28;-4.14	5.58	4.65	0.58169	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.048633	0.85682	D	0.000000	D	0.95076	0.8405	N	0.08118	0	0.58432	D	0.999999	P;D	0.89917	0.929;1.0	B;D	0.91635	0.138;0.999	D	0.91416	0.5155	10	0.02654	T	1	-20.1782	15.9859	0.80151	0.0:0.8647:0.1353:0.0	.	282;277	Q9BZQ4;Q9BZQ4-2	NMNA2_HUMAN;.	S	282;277	ENSP00000287713:G282S;ENSP00000294868:G277S	ENSP00000287713:G282S	G	-	1	0	NMNAT2	181488479	1.000000	0.71417	0.873000	0.34254	0.972000	0.66771	7.496000	0.81526	1.314000	0.45095	0.650000	0.86243	GGC	-	superfamily_Nucleotidylyl transferase		0.582	NMNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMNAT2	protein_coding	OTTHUMT00000086255.1	C			181488479	-1	no_errors	NM_015039.2	genbank	human	reviewed	54_36p	missense	SNP	0.996	T
KCNT2	343450	genome.wustl.edu	37	1	196197412	196197412	+	Missense_Mutation	SNP	C	C	T	rs371191323		TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr1:196197412C>T	ENST00000294725.9	-	28	4265	c.3350G>A	c.(3349-3351)cGa>cAa	p.R1117Q	KCNT2_ENST00000367433.5_Missense_Mutation_p.R1093Q|KCNT2_ENST00000367431.4_Missense_Mutation_p.R1051Q|KCNT2_ENST00000609185.1_Missense_Mutation_p.R1050Q|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1117					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.R1117Q(3)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCTGTTTCTTCGACTGGGCTC	0.363													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16251	0.0		0.0	False		,,,				2504	0.0					dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	1						C	GLN/ARG	0,4406		0,0,2203	74.0	73.0	74.0		3350	4.7	0.3	1		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	KCNT2	NM_198503.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1117/1136	196197412	1,13005	2203	4300	6503	194464035	SO:0001583	missense	0			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.3350G>A	1.37:g.196197412C>T	ENSP00000294725:p.Arg1117Gln	Somatic	610	1.29449838187702	8		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	194464035	255	46.3157894736842	220	Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	HMMPfam_BK_channel_a,HMMPfam_Ion_trans_2,superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_Voltage-gated potassium channels	p.R1117Q	ENST00000294725.9	37	c.3350	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.094212	0.36952	0.0	1.16E-4	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.22336	1.96;1.97;2.21	5.62	4.71	0.59529	.	0.123342	0.36101	N	0.002783	T	0.17789	0.0427	L	0.44542	1.39	0.80722	D	1	P;P;P	0.43314	0.803;0.474;0.687	B;B;B	0.34452	0.183;0.077;0.048	T	0.02232	-1.1191	10	0.52906	T	0.07	-8.702	14.2013	0.65707	0.0:0.9272:0.0:0.0728	.	1093;1050;1117	Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;KCNT2_HUMAN	Q	1093;1051;1117	ENSP00000356403:R1093Q;ENSP00000356401:R1051Q;ENSP00000294725:R1117Q	ENSP00000294725:R1117Q	R	-	2	0	KCNT2	194464035	0.999000	0.42202	0.298000	0.25002	0.314000	0.28054	2.014000	0.40951	1.379000	0.46325	0.585000	0.79938	CGA	-	NULL		0.363	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	protein_coding	OTTHUMT00000086418.2	C	NM_198503		194464035	-1	no_errors	NM_198503.2	genbank	human	validated	54_36p	missense	SNP	0.822	T
NAV1	89796	genome.wustl.edu	37	1	201618123	201618123	+	Silent	SNP	C	C	T			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr1:201618123C>T	ENST00000367296.4	+	1	747	c.327C>T	c.(325-327)ccC>ccT	p.P109P	NAV1_ENST00000367297.4_Silent_p.P109P|NAV1_ENST00000295624.6_Silent_p.P109P|NAV1_ENST00000367300.3_Silent_p.P109P|NAV1_ENST00000367302.1_Silent_p.P122P	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	109					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.P109P(3)		breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TTTATGAGCCCGAATGGAGCG	0.607																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	1											43.0	42.0	42.0					1																	201618123		2203	4300	6503	199884746	SO:0001819	synonymous_variant	0			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.327C>T	1.37:g.201618123C>T		Somatic	790	1.61892901618929	13		1	66.67	2	WXS	Illumina HiSeq	Phase_IV	199884746	347	43.3006535947712	265	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	HMMSmart_AAA,PatternScan_PPASE,superfamily_SSF52540	p.P109	ENST00000367296.4	37	c.327	CCDS1414.2	1																																																																																			-	NULL		0.607	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	protein_coding	OTTHUMT00000087013.1	C	NM_020443		199884746	+1	no_errors	NM_020443.3	genbank	human	reviewed	54_36p	silent	SNP	0.689	T
ABCB11	8647	genome.wustl.edu	37	2	169780250	169780250	+	Missense_Mutation	SNP	G	G	A	rs372886308		TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr2:169780250G>A	ENST00000263817.6	-	28	3972	c.3848C>T	c.(3847-3849)gCg>gTg	p.A1283V		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1283	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)	p.A1283V(3)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	AATGATATCCGCGTTCTGGAT	0.517																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	2						G	VAL/ALA	2,4238		0,2,2118	140.0	140.0	140.0		3848	5.9	1.0	2		140	0,8522		0,0,4261	no	missense	ABCB11	NM_003742.2	64	0,2,6379	AA,AG,GG		0.0,0.0472,0.0157	benign	1283/1322	169780250	2,12760	2120	4261	6381	169488496	SO:0001583	missense	0			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.3848C>T	2.37:g.169780250G>A	ENSP00000263817:p.Ala1283Val	Somatic	813	1.21506682867558	10		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	169488496	324	46.9721767594108	287	Q53TL2|Q9UNB2	Missense_Mutation	SNP	HMMPfam_ABC_membrane,HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.A1283V	ENST00000263817.6	37	c.3848	CCDS46444.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.458374	0.96240	4.72E-4	0.0	ENSG00000073734	ENST00000263817	D	0.85773	-2.03	5.86	5.86	0.93980	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.168458	0.53938	D	0.000046	D	0.88887	0.6559	M	0.72479	2.2	0.49483	D	0.999799	D;P	0.54047	0.964;0.695	P;B	0.48921	0.595;0.311	D	0.89701	0.3905	10	0.87932	D	0	.	20.2433	0.98387	0.0:0.0:1.0:0.0	.	701;1283	B4DZQ8;O95342	.;ABCBB_HUMAN	V	1283	ENSP00000263817:A1283V	ENSP00000263817:A1283V	A	-	2	0	ABCB11	169488496	1.000000	0.71417	0.961000	0.40146	0.966000	0.64601	9.869000	0.99810	2.784000	0.95788	0.650000	0.86243	GCG	-	HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.517	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB11	protein_coding	OTTHUMT00000333616.2	G	NM_003742		169488496	-1	no_errors	NM_003742.2	genbank	human	reviewed	54_36p	missense	SNP	0.982	A
BRPF1	7862	genome.wustl.edu	37	3	9786731	9786731	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr3:9786731T>C	ENST00000457855.1	+	9	2953	c.2942T>C	c.(2941-2943)gTg>gCg	p.V981A	BRPF1_ENST00000424362.1_Missense_Mutation_p.V980A|BRPF1_ENST00000383829.2_Missense_Mutation_p.V987A|BRPF1_ENST00000302054.3_Missense_Mutation_p.V981A|BRPF1_ENST00000433861.2_Missense_Mutation_p.V886A			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	981	Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.V987A(3)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					AACCAACCAGTGAAGAAGAGT	0.532																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	3											114.0	95.0	101.0					3																	9786731		2203	4300	6503	9761731	SO:0001583	missense	0			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.2942T>C	3.37:g.9786731T>C	ENSP00000410210:p.Val981Ala	Somatic	1044	0.19	2		32	48.39	30	WXS	Illumina HiSeq	Phase_IV	9761731	291	40.85	203	B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_PWWP,HMMPfam_Bromodomain,HMMSmart_BROMO,superfamily_Bromodomain,HMMSmart_PHD,PatternScan_ZINC_FINGER_C2H2_1,superfamily_FYVE_PHD_ZnF,HMMSmart_ZnF_C2H2,HMMPfam_EPL1,PatternScan_ZF_PHD_1,HMMPfam_PHD,superfamily_SSF63748	p.V987A	ENST00000457855.1	37	c.2960	CCDS2575.1	3	.	.	.	.	.	.	.	.	.	.	T	7.642	0.681103	0.14907	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.15718	2.4;2.41;3.8;2.41;2.41	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.16685	0.0401	L	0.53249	1.67	0.54753	D	0.999989	B;B;B;B	0.31817	0.341;0.135;0.135;0.039	B;B;B;B	0.28139	0.086;0.025;0.06;0.011	T	0.03981	-1.0987	10	0.08837	T	0.75	.	15.827	0.78718	0.0:0.0:0.0:1.0	.	886;980;987;981	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	A	886;980;987;981;981	ENSP00000402485:V886A;ENSP00000398863:V980A;ENSP00000373340:V987A;ENSP00000306297:V981A;ENSP00000410210:V981A	ENSP00000306297:V981A	V	+	2	0	BRPF1	9761731	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.816000	0.69222	2.129000	0.65627	0.533000	0.62120	GTG	-	NULL		0.532	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRPF1	protein_coding	OTTHUMT00000338485.1	T	NM_001003694		9761731	+1	no_errors	NM_001003694.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
GNAI2	2771	genome.wustl.edu	37	3	50293695	50293695	+	Missense_Mutation	SNP	G	G	A	rs137853227		TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr3:50293695G>A	ENST00000313601.6	+	5	920	c.536G>A	c.(535-537)cGc>cAc	p.R179H	GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000440628.1_Missense_Mutation_p.R127H|GNAI2_ENST00000451956.1_Missense_Mutation_p.R142H|GNAI2_ENST00000536647.1_Missense_Mutation_p.R98H|GNAI2_ENST00000422163.1_Missense_Mutation_p.R163H|GNAI2_ENST00000266027.5_Missense_Mutation_p.R163H	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	179					activation of MAPKK activity (GO:0000186)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of synaptic transmission (GO:0050805)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|regulation of calcium ion transport (GO:0051924)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R179H(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		CTACGGACCCGCGTAAAGACC	0.592																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	3											124.0	95.0	105.0					3																	50293695		2203	4300	6503	50268699	SO:0001583	missense	0			X04828	CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1	3p21.31	2010-08-27			ENSG00000114353	ENSG00000114353			4385	protein-coding gene	gene with protein product	"""GTP-binding regulatory protein Gi alpha-2 chain"""	139360		GNAI2B		3100330, 1733849	Standard	NM_001166425		Approved	GIP	uc003cyq.1	P04899	OTTHUMG00000156940	ENST00000313601.6:c.536G>A	3.37:g.50293695G>A	ENSP00000312999:p.Arg179His	Somatic	621	0.321027287319422	2		510	29.46	213	WXS	Illumina HiSeq	Phase_IV	50268699	310	23.2673267326733	94	B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	Missense_Mutation	SNP	HMMPfam_G-alpha,superfamily_Transducin (alpha subunit) insertion domain,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.R179H	ENST00000313601.6	37	c.536	CCDS2813.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.374694	0.95923	.	.	ENSG00000114353	ENST00000422163;ENST00000313601;ENST00000536647;ENST00000540560;ENST00000440628;ENST00000451956;ENST00000266027	T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.0	5.0	0.66597	G protein alpha subunit, helical insertion (1);	0.056274	0.64402	D	0.000001	D	0.88474	0.6446	H	0.99498	4.595	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.93163	0.6559	10	0.87932	D	0	.	16.6101	0.84880	0.0:0.0:1.0:0.0	.	142;179;163;163	B4DYA0;P04899;B3KTZ0;P04899-2	.;GNAI2_HUMAN;.;.	H	163;179;98;179;127;142;163	ENSP00000406871:R163H;ENSP00000312999:R179H;ENSP00000444360:R98H;ENSP00000395736:R127H;ENSP00000406369:R142H;ENSP00000266027:R163H	ENSP00000266027:R163H	R	+	2	0	GNAI2	50268699	1.000000	0.71417	0.952000	0.39060	0.931000	0.56810	9.752000	0.98900	2.713000	0.92767	0.655000	0.94253	CGC	-	HMMPfam_G-alpha,superfamily_Transducin (alpha subunit) insertion domain,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.592	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAI2	protein_coding	OTTHUMT00000346688.1	G	NM_002070		50268699	+1	no_errors	NM_002070.2	genbank	human	validated	54_36p	missense	SNP	0.998	A
EGFEM1P	93556	genome.wustl.edu	37	3	168520771	168520771	+	IGR	SNP	C	C	T			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr3:168520771C>T								MIR551B (251034 upstream) : EGFEM1P (4569 downstream)																							TTGGTGCTCCCCGTTGTTCCT	0.388																																						dbGAP											0			3																																								170003465	SO:0001628	intergenic_variant	0																															3.37:g.168520771C>T		Somatic	899	0.662983425414365	6		0	0.00	0	WXS	Illumina HiSeq	Phase_IV	170003465	642	16.2972620599739	125		Silent	SNP	PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin	p.P108		37	c.324		3																																																																																			-	HMMSmart_SM00181,superfamily_EGF/Laminin	0	0.388					LOC253820			C			170003465	+1	no_errors	XM_001726233.1	genbank	human	model	54_36p	silent	SNP	0.015	T
DAXX	1616	genome.wustl.edu	37	6	33288297	33288297	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr6:33288297G>A	ENST00000374542.5	-	4	1315	c.1111C>T	c.(1111-1113)Cgg>Tgg	p.R371W	ZBTB22_ENST00000418724.1_5'Flank|DAXX_ENST00000414083.2_Missense_Mutation_p.R296W|DAXX_ENST00000266000.6_Missense_Mutation_p.R371W|DAXX_ENST00000477162.1_5'UTR|ZBTB22_ENST00000431845.2_5'Flank	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	371	Interaction with histone H3.3.|Necessary for interaction with USP7.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.R371W(3)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TCATCCAGCCGACTCATGGCC	0.532			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	dbGAP		Rec	yes		6	6p21.3	1616	death-domain associated protein		E	3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	6											77.0	74.0	75.0					6																	33288297		2203	4300	6503	33396275	SO:0001583	missense	0			AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1111C>T	6.37:g.33288297G>A	ENSP00000363668:p.Arg371Trp	Somatic	1578	1.68	27		19	55.81	24	WXS	Illumina HiSeq	Phase_IV	33396275	303	39.64	199	B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	HMMPfam_Daxx	p.R371W	ENST00000374542.5	37	c.1111	CCDS4776.1	6	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109098	0.56398	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	4.56	3.68	0.42216	.	0.119337	0.56097	D	0.000022	T	0.70090	0.3184	M	0.74258	2.255	0.39835	D	0.973028	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.979;0.991;0.991	T	0.75371	-0.3341	9	0.87932	D	0	-5.7236	11.6553	0.51315	0.0:0.0:0.8211:0.1789	.	383;371;371	B4E1C1;B2R7M0;Q9UER7	.;.;DAXX_HUMAN	W	371;371;296	.	ENSP00000266000:R371W	R	-	1	2	DAXX	33396275	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.659000	0.46741	1.130000	0.42092	-0.195000	0.12781	CGG	-	HMMPfam_Daxx		0.532	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAXX	protein_coding	OTTHUMT00000076403.1	G			33396275	-1	no_errors	NM_001350.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
DAAM2	23500	genome.wustl.edu	37	6	39869234	39869234	+	Missense_Mutation	SNP	C	C	T	rs368619961	byFrequency	TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr6:39869234C>T	ENST00000398904.2	+	24	3150	c.2968C>T	c.(2968-2970)Cgc>Tgc	p.R990C	DAAM2_ENST00000538976.1_Missense_Mutation_p.R989C|DAAM2_ENST00000274867.4_Missense_Mutation_p.R990C|RP11-61I13.3_ENST00000437947.1_RNA			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	990	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)			p.R989C(3)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GCGGCGGGCGCGCATGGAAGC	0.622													C|||	3	0.000599042	0.0015	0.0	5008	,	,		14261	0.0		0.001	False		,,,				2504	0.0					dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	6						C	CYS/ARG,CYS/ARG	0,4074		0,0,2037	28.0	31.0	30.0		2968,2965	5.2	1.0	6		30	1,8341		0,1,4170	no	missense,missense	DAAM2	NM_001201427.1,NM_015345.3	180,180	0,1,6207	TT,TC,CC		0.012,0.0,0.0081	possibly-damaging,possibly-damaging	990/1069,989/1068	39869234	1,12415	2037	4171	6208	39977212	SO:0001583	missense	0			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2968C>T	6.37:g.39869234C>T	ENSP00000381876:p.Arg990Cys	Somatic	709	1.51	11		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	39977212	235	47.03	214	G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	HMMSmart_SM00498,HMMPfam_Drf_FH3,HMMPfam_Drf_GBD,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain)	p.R989C	ENST00000398904.2	37	c.2965	CCDS56426.1	6	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940565	0.73557	0.0	1.2E-4	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.81739	-1.52;-1.52;-1.53	5.17	5.17	0.71159	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (1);	0.208599	0.42053	D	0.000768	T	0.79862	0.4519	M	0.83118	2.625	0.80722	D	1	P;P	0.47545	0.897;0.688	B;B	0.41440	0.357;0.09	D	0.84864	0.0821	10	0.72032	D	0.01	.	18.6645	0.91485	0.0:1.0:0.0:0.0	.	989;990	G5EA45;Q86T65	.;DAAM2_HUMAN	C	990;990;989	ENSP00000274867:R990C;ENSP00000381876:R990C;ENSP00000437808:R989C	ENSP00000274867:R990C	R	+	1	0	DAAM2	39977212	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	4.711000	0.61881	2.578000	0.87016	0.655000	0.94253	CGC	-	HMMSmart_SM00498		0.622	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DAAM2	protein_coding	OTTHUMT00000280648.1	C			39977212	+1	no_errors	NM_015345.2	genbank	human	validated	54_36p	missense	SNP	1.000	T
TMEM151B	441151	genome.wustl.edu	37	6	44243676	44243676	+	Silent	SNP	G	G	A			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr6:44243676G>A	ENST00000451188.2	+	3	1390	c.1113G>A	c.(1111-1113)acG>acA	p.T371T	RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron	NM_001137560.1	NP_001131032.1	Q8IW70	T151B_HUMAN	transmembrane protein 151B	371						integral component of membrane (GO:0016021)		p.T371T(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)	6						TAGACAGCACGGAGCTCGAGT	0.721																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	6											16.0	18.0	17.0					6																	44243676		692	1590	2282	44351654	SO:0001819	synonymous_variant	0			AK126839	CCDS47437.1	6p21.1	2009-04-17	2007-10-25	2007-10-25	ENSG00000178233	ENSG00000178233			21315	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 137"", ""transmembrane protein 193"""	C6orf137, TMEM193			Standard	NM_001137560		Approved	bA444E17.5	uc003oxh.2	Q8IW70	OTTHUMG00000014765	ENST00000451188.2:c.1113G>A	6.37:g.44243676G>A		Somatic	292	0.34	1		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	44351654	116	47.03	103	Q5T9V7	Silent	SNP	NULL	p.T371	ENST00000451188.2	37	c.1113	CCDS47437.1	6																																																																																			-	NULL		0.721	TMEM151B-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TMEM151B	protein_coding	OTTHUMT00000040740.2	G	NM_001039704		44351654	+1	no_errors	ENST00000388811	ensembl	human	known	54_36p	silent	SNP	0.977	A
COL12A1	1303	genome.wustl.edu	37	6	75860981	75860981	+	Silent	SNP	G	G	A			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr6:75860981G>A	ENST00000322507.8	-	21	4332	c.4023C>T	c.(4021-4023)gtC>gtT	p.V1341V	COL12A1_ENST00000483888.2_Silent_p.V1341V|COL12A1_ENST00000416123.2_Silent_p.V1341V|COL12A1_ENST00000345356.6_Silent_p.V177V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1341	VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.V1341V(3)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TCTTTAATTCGACTTCATCAG	0.338																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	6											132.0	133.0	132.0					6																	75860981		1864	4103	5967	75917701	SO:0001819	synonymous_variant	0			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.4023C>T	6.37:g.75860981G>A		Somatic	628	0.475435816164818	3		1	0.00	0	WXS	Illumina HiSeq	Phase_IV	75917701	210	38.7755102040816	133	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	HMMPfam_VWA,HMMSmart_SM00327,HMMSmart_SM00210,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like	p.V1341	ENST00000322507.8	37	c.4023	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	G	5.514	0.279735	0.10458	.	.	ENSG00000111799	ENST00000419671	.	.	.	5.59	-0.926	0.10455	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4534	0.44535	0.7165:0.0:0.2835:0.0	.	.	.	.	X	83	.	.	R	-	1	2	COL12A1	75917701	0.998000	0.40836	0.248000	0.24265	0.781000	0.44180	0.886000	0.28241	-0.137000	0.11455	-0.897000	0.02905	CGA	-	HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like		0.338	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	protein_coding	OTTHUMT00000041249.3	G	NM_004370		75917701	-1	no_errors	NM_004370.5	genbank	human	reviewed	54_36p	silent	SNP	0.459	A
Unknown	0	genome.wustl.edu	37	6	87540311	87540311	+	IGR	SNP	G	G	A			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr6:87540311G>A								AL391417.1 (356998 upstream) : HTR1E (106712 downstream)																							ATGTAAACTCGGTTACATATT	0.234																																						dbGAP											0			6																																								87597030	SO:0001628	intergenic_variant	0																															6.37:g.87540311G>A		Somatic	251	1.18110236220472	3		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	87597030	52	45.8333333333333	44		RNA	SNP	-	NULL		37	NULL		6																																																																																			-	-	0	0.234					LOC643962			G			87597030	-1	no_errors	XR_041993.1	genbank	human	model	54_36p	rna	SNP	0.002	A
GABRR1	2569	genome.wustl.edu	37	6	89891699	89891699	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr6:89891699C>T	ENST00000454853.2	-	8	984	c.874G>A	c.(874-876)Gct>Act	p.A292T	GABRR1_ENST00000369451.3_Missense_Mutation_p.A205T|GABRR1_ENST00000435811.1_Missense_Mutation_p.A275T	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	292					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.A286T(3)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	ATCAGGGTAGCGGGGAAATAA	0.507																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	6											167.0	152.0	157.0					6																	89891699		2203	4300	6503	89948418	SO:0001583	missense	0				CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.874G>A	6.37:g.89891699C>T	ENSP00000412673:p.Ala292Thr	Somatic	919	1.50	14		0	100.00	1	WXS	Illumina HiSeq	Phase_IV	89948418	370	46.06	316	A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like,PatternScan_NEUROTR_ION_CHANNEL	p.A286T	ENST00000454853.2	37	c.856	CCDS5019.2	6	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710459	0.89018	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	D;D;D	0.85484	-1.99;-1.99;-1.99	5.49	5.49	0.81192	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.83968	0.5369	L	0.38649	1.16	0.80722	D	1	D;D	0.55385	0.964;0.971	P;P	0.56474	0.477;0.799	T	0.82317	-0.0517	9	.	.	.	-32.0355	19.3843	0.94550	0.0:1.0:0.0:0.0	.	275;292	P24046-2;P24046	.;GBRR1_HUMAN	T	292;275;205;205	ENSP00000412673:A292T;ENSP00000394687:A275T;ENSP00000358463:A205T	.	A	-	1	0	GABRR1	89948418	1.000000	0.71417	0.955000	0.39395	0.826000	0.46750	6.089000	0.71384	2.574000	0.86865	0.563000	0.77884	GCT	-	HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore		0.507	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRR1	protein_coding	OTTHUMT00000041479.2	C			89948418	-1	no_errors	NM_002042.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
GPRC6A	222545	genome.wustl.edu	37	6	117127655	117127655	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr6:117127655C>A	ENST00000310357.3	-	3	1234	c.1213G>T	c.(1213-1215)Gac>Tac	p.D405Y	GPRC6A_ENST00000368549.3_Missense_Mutation_p.D405Y|GPRC6A_ENST00000530250.1_Intron	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	405					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D405Y(3)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TCAGCATAGTCCCAGAGGAAG	0.448																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	6											122.0	108.0	113.0					6																	117127655		2203	4299	6502	117234348	SO:0001583	missense	0			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.1213G>T	6.37:g.117127655C>A	ENSP00000309493:p.Asp405Tyr	Somatic	999	1.19	12		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	117234348	493	46.82	434	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	HMMPfam_ANF_receptor,HMMPfam_NCD3G,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_2,superfamily_Periplasmic binding protein-like I	p.D405Y	ENST00000310357.3	37	c.1213	CCDS5112.1	6	.	.	.	.	.	.	.	.	.	.	C	4.404	0.074673	0.08485	.	.	ENSG00000173612	ENST00000310357;ENST00000368549	D;D	0.88354	-2.37;-2.37	5.48	1.72	0.24424	Extracellular ligand-binding receptor (1);	0.243411	0.28436	N	0.015350	T	0.79458	0.4449	M	0.78049	2.395	0.25583	N	0.986774	B;B	0.28820	0.224;0.033	B;B	0.29353	0.101;0.02	T	0.74581	-0.3618	10	0.87932	D	0	.	7.3714	0.26804	0.0:0.6155:0.1584:0.2262	.	405;405	Q5T6X5-3;Q5T6X5	.;GPC6A_HUMAN	Y	405	ENSP00000309493:D405Y;ENSP00000357537:D405Y	ENSP00000309493:D405Y	D	-	1	0	GPRC6A	117234348	0.232000	0.23762	0.993000	0.49108	0.091000	0.18340	0.793000	0.26944	0.449000	0.26747	-0.142000	0.14014	GAC	-	HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I		0.448	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC6A	protein_coding	OTTHUMT00000041966.2	C			117234348	-1	no_errors	NM_148963.2	genbank	human	validated	54_36p	missense	SNP	0.004	A
NCOA7	135112	genome.wustl.edu	37	6	126210950	126210950	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr6:126210950A>G	ENST00000368357.3	+	10	2102	c.1750A>G	c.(1750-1752)Aaa>Gaa	p.K584E	NCOA7_ENST00000229634.9_Missense_Mutation_p.K469E|NCOA7_ENST00000392477.2_Missense_Mutation_p.K584E	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	584					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)	p.K584E(3)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		GACCTGGGTGAAAAAGGGAGA	0.463																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	6											53.0	57.0	56.0					6																	126210950		2203	4300	6503	126252643	SO:0001583	missense	0			AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.1750A>G	6.37:g.126210950A>G	ENSP00000357341:p.Lys584Glu	Somatic	656	1.79640718562874	12		11	38.89	7	WXS	Illumina HiSeq	Phase_IV	126252643	222	46.1165048543689	190	B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	HMMSmart_SM00257,HMMPfam_GRAM,HMMPfam_TLD,HMMSmart_SM00584,HMMPfam_LysM,superfamily_LysM domain	p.K584E	ENST00000368357.3	37	c.1750	CCDS5132.1	6	.	.	.	.	.	.	.	.	.	.	A	1.782	-0.481794	0.04383	.	.	ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000229634;ENST00000413085	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.56	5.56	0.83823	.	0.419874	0.22937	N	0.053823	T	0.07548	0.0190	L	0.27053	0.805	0.09310	N	0.999997	B;B;B	0.12630	0.006;0.004;0.002	B;B;B	0.12837	0.008;0.006;0.003	T	0.18903	-1.0322	10	0.16896	T	0.51	-11.4371	8.3652	0.32382	0.8838:0.0:0.1162:0.0	.	573;573;584	B3KXK4;Q8NI08-2;Q8NI08	.;.;NCOA7_HUMAN	E	584;584;469;382	ENSP00000357341:K584E;ENSP00000376269:K584E;ENSP00000229634:K469E;ENSP00000389186:K382E	ENSP00000229634:K469E	K	+	1	0	NCOA7	126252643	0.147000	0.22687	0.137000	0.22149	0.093000	0.18481	0.925000	0.28791	2.125000	0.65367	0.533000	0.62120	AAA	-	NULL		0.463	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA7	protein_coding	OTTHUMT00000042083.4	A	XM_059748		126252643	+1	no_errors	NM_181782.1	genbank	human	validated	54_36p	missense	SNP	0.014	G
FZD1	8321	genome.wustl.edu	37	7	90895745	90895745	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr7:90895745G>A	ENST00000287934.2	+	1	1963	c.1550G>A	c.(1549-1551)cGc>cAc	p.R517H		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	517					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R517H(3)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			TTCCGCATCCGCACCATCATG	0.602																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	7											151.0	131.0	138.0					7																	90895745		2203	4300	6503	90733681	SO:0001583	missense	0			AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1550G>A	7.37:g.90895745G>A	ENSP00000287934:p.Arg517His	Somatic	576	1.36986301369863	8		7	46.15	6	WXS	Illumina HiSeq	Phase_IV	90733681	242	45.372460496614	201	A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	superfamily_Frizzled cysteine-rich domain,HMMPfam_Frizzled,HMMPfam_Fz,HMMSmart_SM00063	p.R517H	ENST00000287934.2	37	c.1550	CCDS5620.1	7	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711646	0.89112	.	.	ENSG00000157240	ENST00000287934	D	0.85702	-2.02	4.79	4.79	0.61399	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000009	D	0.93795	0.8016	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94910	0.8064	10	0.72032	D	0.01	.	18.0221	0.89258	0.0:0.0:1.0:0.0	.	517	Q9UP38	FZD1_HUMAN	H	517	ENSP00000287934:R517H	ENSP00000287934:R517H	R	+	2	0	FZD1	90733681	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.577000	0.98196	2.491000	0.84063	0.655000	0.94253	CGC	-	HMMPfam_Frizzled		0.602	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD1	protein_coding	OTTHUMT00000059367.2	G	NM_003505		90733681	+1	no_errors	NM_003505.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
TSPYL5	85453	genome.wustl.edu	37	8	98288903	98288903	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr8:98288903C>A	ENST00000322128.3	-	1	1273	c.1170G>T	c.(1168-1170)gaG>gaT	p.E390D		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	390					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)		p.E390D(3)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					CCTTTCCTTTCTCTACACGAG	0.493																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	8											168.0	176.0	173.0					8																	98288903		2203	4300	6503	98358079	SO:0001583	missense	0			AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.1170G>T	8.37:g.98288903C>A	ENSP00000322802:p.Glu390Asp	Somatic	1485	0.74	11		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	98358079	406	46.08	347	B3KRF0|Q9C0B3	Missense_Mutation	SNP	HMMPfam_NAP	p.E390D	ENST00000322128.3	37	c.1170	CCDS34927.1	8	.	.	.	.	.	.	.	.	.	.	C	7.086	0.571285	0.13623	.	.	ENSG00000180543	ENST00000322128	T	0.17054	2.3	4.53	2.76	0.32466	.	0.000000	0.33253	N	0.005105	T	0.08980	0.0222	N	0.24115	0.695	0.43207	D	0.99506	B	0.30824	0.296	B	0.26310	0.068	T	0.26916	-1.0089	10	0.20519	T	0.43	-11.7549	6.973	0.24658	0.0:0.7985:0.0:0.2015	.	390	Q86VY4	TSYL5_HUMAN	D	390	ENSP00000322802:E390D	ENSP00000322802:E390D	E	-	3	2	TSPYL5	98358079	0.993000	0.37304	0.989000	0.46669	0.352000	0.29268	0.307000	0.19296	0.862000	0.35528	0.655000	0.94253	GAG	-	HMMPfam_NAP		0.493	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL5	protein_coding	OTTHUMT00000380611.1	C	NM_033512		98358079	-1	no_errors	NM_033512.2	genbank	human	validated	54_36p	missense	SNP	0.998	A
VPS13B	157680	genome.wustl.edu	37	8	100205130	100205130	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr8:100205130C>A	ENST00000358544.2	+	17	2471	c.2360C>A	c.(2359-2361)aCt>aAt	p.T787N	VPS13B_ENST00000395996.1_Missense_Mutation_p.T787N|VPS13B_ENST00000357162.2_Missense_Mutation_p.T787N|VPS13B_ENST00000521932.1_3'UTR|VPS13B_ENST00000355155.1_Missense_Mutation_p.T787N	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	787					protein transport (GO:0015031)			p.T787N(3)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATTGCTATAACTGAAGGTATA	0.348																																					Colon(161;2205 2542 7338 31318)	dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	8											118.0	112.0	114.0					8																	100205130		2203	4300	6503	100274306	SO:0001583	missense	0			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.2360C>A	8.37:g.100205130C>A	ENSP00000351346:p.Thr787Asn	Somatic	937	0.85	8		26	40.91	18	WXS	Illumina HiSeq	Phase_IV	100274306	629	42.10	458	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	PatternScan_ZINC_PROTEASE	p.T787N	ENST00000358544.2	37	c.2360	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	C	13.36	2.215237	0.39102	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	T;T;T;T	0.79749	-1.3;-0.57;-0.57;-0.27	5.01	1.96	0.26148	.	0.175728	0.39544	N	0.001327	T	0.69142	0.3078	L	0.34521	1.04	0.34254	D	0.679164	B;B;B;B;B	0.20671	0.01;0.021;0.001;0.01;0.047	B;B;B;B;B	0.18263	0.009;0.013;0.002;0.009;0.021	T	0.69308	-0.5179	10	0.54805	T	0.06	.	10.1346	0.42699	0.3886:0.4857:0.1256:0.0	.	787;787;787;787;787	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;.;VP13B_HUMAN;.;.	N	787	ENSP00000347281:T787N;ENSP00000349685:T787N;ENSP00000351346:T787N;ENSP00000379318:T787N	ENSP00000347281:T787N	T	+	2	0	VPS13B	100274306	1.000000	0.71417	0.987000	0.45799	0.989000	0.77384	1.903000	0.39858	0.450000	0.26774	0.460000	0.39030	ACT	-	NULL		0.348	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	protein_coding	OTTHUMT00000277138.1	C	NM_184042		100274306	+1	no_errors	NM_017890.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
DCSTAMP	81501	genome.wustl.edu	37	8	105367321	105367321	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr8:105367321C>T	ENST00000297581.2	+	3	1295	c.1246C>T	c.(1246-1248)Cgc>Tgc	p.R416C	DCSTAMP_ENST00000520080.1_3'UTR|DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	416					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)		p.R416C(3)									GGAGAGGAAGCGCATCCAATA	0.443																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	8											127.0	125.0	125.0					8																	105367321		2203	4300	6503	105436497	SO:0001583	missense	0			AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.1246C>T	8.37:g.105367321C>T	ENSP00000297581:p.Arg416Cys	Somatic	1265	0.39	5		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	105436497	294	49.05	284	B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	HMMPfam_DC_STAMP	p.R416C	ENST00000297581.2	37	c.1246	CCDS6301.1	8	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392170	0.42410	.	.	ENSG00000164935	ENST00000297581	T	0.78481	-1.18	5.44	3.47	0.39725	Dendritic cell-specific transmembrane protein-like (1);	0.000000	0.85682	D	0.000000	D	0.87386	0.6164	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89112	0.3497	10	0.87932	D	0	-17.4	13.2788	0.60202	0.2929:0.7071:0.0:0.0	.	416	Q9H295	TM7S4_HUMAN	C	416	ENSP00000297581:R416C	ENSP00000297581:R416C	R	+	1	0	TM7SF4	105436497	0.801000	0.28930	0.124000	0.21820	0.176000	0.22953	1.394000	0.34509	1.357000	0.45904	0.655000	0.94253	CGC	-	HMMPfam_DC_STAMP		0.443	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM7SF4	protein_coding	OTTHUMT00000380810.1	C	NM_030788		105436497	+1	no_errors	NM_030788.2	genbank	human	reviewed	54_36p	missense	SNP	0.698	T
BAI1	575	genome.wustl.edu	37	8	143625648	143625648	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr8:143625648C>T	ENST00000517894.1	+	31	5519	c.4625C>T	c.(4624-4626)aCg>aTg	p.T1542M	BAI1_ENST00000323289.5_Missense_Mutation_p.T1542M			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1542	Necessary for interaction with MAGI1.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T1542M(3)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGGACGCCCACGTGGGTGAAG	0.706																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	8											12.0	22.0	19.0					8																	143625648		1720	3552	5272	143622650	SO:0001583	missense	0			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.4625C>T	8.37:g.143625648C>T	ENSP00000430945:p.Thr1542Met	Somatic	448	0.884955752212389	4		3	57.14	4	WXS	Illumina HiSeq	Phase_IV	143622650	160	52.6627218934911	178		Missense_Mutation	SNP	HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_HRM,HMMSmart_SM00008	p.T1542M	ENST00000517894.1	37	c.4625		8	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323444	0.60634	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.28069	1.63;1.63	4.32	4.32	0.51571	.	0.407181	0.21938	U	0.066928	T	0.18383	0.0441	N	0.08118	0	0.29981	N	0.817679	B	0.30870	0.298	B	0.28465	0.09	T	0.15954	-1.0419	10	0.62326	D	0.03	.	15.804	0.78477	0.0:1.0:0.0:0.0	.	1542	E9PBK0	.	M	1542	ENSP00000430945:T1542M;ENSP00000313046:T1542M	ENSP00000313046:T1542M	T	+	2	0	BAI1	143622650	0.939000	0.31865	0.822000	0.32727	0.996000	0.88848	7.137000	0.77295	1.950000	0.56595	0.561000	0.74099	ACG	-	NULL		0.706	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	BAI1	protein_coding	OTTHUMT00000379963.3	C	NM_001702		143622650	+1	no_errors	NM_001702.2	genbank	human	reviewed	54_36p	missense	SNP	0.068	T
ARC	23237	genome.wustl.edu	37	8	143694874	143694874	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr8:143694874C>G	ENST00000356613.2	-	1	1959	c.759G>C	c.(757-759)tgG>tgC	p.W253C	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	0					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)	p.W253C(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				TGAACTCCCACCACTTCTTGG	0.607																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	8											41.0	43.0	42.0					8																	143694874		2201	4300	6501	143691876	SO:0001583	missense	0			AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.759G>C	8.37:g.143694874C>G	ENSP00000349022:p.Trp253Cys	Somatic	577	2.36886632825719	14		0	100.00	2	WXS	Illumina HiSeq	Phase_IV	143691876	304	42.9643527204503	229	B4DFL0|O60937	Missense_Mutation	SNP	NULL	p.W253C	ENST00000356613.2	37	c.759	CCDS34950.1	8	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305167	0.60305	.	.	ENSG00000198576	ENST00000356613	.	.	.	4.92	4.92	0.64577	.	0.000000	0.53938	U	0.000055	T	0.65228	0.2671	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70850	-0.4760	9	0.87932	D	0	.	17.0817	0.86600	0.0:1.0:0.0:0.0	.	253	Q7LC44	ARC_HUMAN	C	253	.	ENSP00000349022:W253C	W	-	3	0	ARC	143691876	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.421000	0.44688	2.271000	0.75665	0.462000	0.41574	TGG	-	NULL		0.607	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ARC	protein_coding	OTTHUMT00000259274.2	C			143691876	-1	no_errors	NM_015193.3	genbank	human	validated	54_36p	missense	SNP	1.000	G
TONSL	4796	genome.wustl.edu	37	8	145668658	145668658	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr8:145668658G>A	ENST00000409379.3	-	4	340	c.311C>T	c.(310-312)aCg>aTg	p.T104M		NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	104					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)	p.T104M(3)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CTGCAGCTCCGTGTGGTTGCG	0.622																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	8											90.0	95.0	93.0					8																	145668658		692	1591	2283	145639466	SO:0001583	missense	0				CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.311C>T	8.37:g.145668658G>A	ENSP00000386239:p.Thr104Met	Somatic	588	1.50753768844221	9		19	45.71	16	WXS	Illumina HiSeq	Phase_IV	145639466	301	44.1558441558442	238	B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	HMMPfam_TPR_1,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMSmart_SM00368,HMMSmart_SM00028,superfamily_TPR-like,superfamily_RNI-like	p.T104M	ENST00000409379.3	37	c.311	CCDS34968.2	8	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304083	0.40795	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.76709	-1.04	4.81	1.5	0.22942	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.60444	0.2269	N	0.14661	0.345	0.09310	N	1	P	0.51240	0.943	B	0.42692	0.395	T	0.51450	-0.8704	9	0.46703	T	0.11	.	7.0352	0.24989	0.3913:0.0:0.6087:0.0	.	104	Q96HA7	TONSL_HUMAN	M	104	ENSP00000386239:T104M	ENSP00000386239:T104M	T	-	2	0	TONSL	145639466	0.072000	0.21174	0.066000	0.19879	0.801000	0.45260	0.576000	0.23744	0.310000	0.22990	0.462000	0.41574	ACG	-	superfamily_TPR-like		0.622	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFKBIL2	protein_coding	OTTHUMT00000329668.2	G	NM_013432		145639466	-1	no_errors	ENST00000409379	ensembl	human	known	54_36p	missense	SNP	0.004	A
RP11-526P5.1	0	genome.wustl.edu	37	10	2544120	2544120	+	lincRNA	SNP	C	C	T	rs138971719		TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr10:2544120C>T	ENST00000431209.1	+	0	664				RP11-526P5.2_ENST00000438753.1_lincRNA																							GTCGCGCACCCGGTTGGATTT	0.478																																						dbGAP											0			10																																								2534120			0																															10.37:g.2544120C>T		Somatic	1506	0.59	9		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	2534120	554	24.42	180		Missense_Mutation	SNP	NULL	p.R7Q	ENST00000431209.1	37	c.20		10																																																																																			-	NULL		0.478	RP11-526P5.1-001	KNOWN	basic|exp_conf	lincRNA	LOC727878	lincRNA	OTTHUMT00000046445.1	C			2534120	-1	no_errors	XM_001126639.1	genbank	human	model	54_36p	missense	SNP	0.000	T
ANK3	288	genome.wustl.edu	37	10	61926581	61926581	+	Splice_Site	SNP	C	C	A			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr10:61926581C>A	ENST00000280772.2	-	22	2743		c.e22+1		ANK3_ENST00000503366.1_Splice_Site|ANK3_ENST00000460468.1_Splice_Site|ANK3_ENST00000373827.2_Splice_Site	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.?(3)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CATTTTCATACCTTCATCATC	0.318																																						dbGAP											3	Unknown(3)	haematopoietic_and_lymphoid_tissue(3)	10											154.0	145.0	148.0					10																	61926581		2202	4299	6501	61596587	SO:0001630	splice_region_variant	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.2551+1G>T	10.37:g.61926581C>A		Somatic	1153	1.36869118905047	16		0	100.00	1	WXS	Illumina HiSeq	Phase_IV	61596587	429	43.9947780678851	337	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Splice_Site	SNP	-	e22+1	ENST00000280772.2	37	c.2551+1	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516459	0.64634	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000536348;ENST00000460468;ENST00000474360	.	.	.	5.42	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4591	0.75339	0.14:0.86:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANK3	61596587	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.818000	0.86416	1.263000	0.44181	0.650000	0.86243	.	-	-		0.318	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	protein_coding	OTTHUMT00000048201.4	C	NM_020987	Intron	61596587	-1	no_errors	NM_020987.2	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	A
MYEOV	26579	genome.wustl.edu	37	11	69063836	69063836	+	Missense_Mutation	SNP	C	C	A	rs147884839		TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr11:69063836C>A	ENST00000308946.3	+	3	1369	c.919C>A	c.(919-921)Ctc>Atc	p.L307I	MYEOV_ENST00000441339.2_Missense_Mutation_p.L307I|MYEOV_ENST00000535407.1_Missense_Mutation_p.L249I	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	307								p.L307I(3)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		cctcctcctcctcatcatcat	0.547																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	11						C	ILE/LEU	0,4394		0,0,2197	34.0	30.0	32.0		919	-1.5	0.0	11	dbSNP_134	32	2,8576		0,2,4287	yes	missense	MYEOV	NM_138768.2	5	0,2,6484	AA,AC,CC		0.0233,0.0,0.0154	benign	307/314	69063836	2,12970	2197	4289	6486	68820412	SO:0001583	missense	0			AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"""myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"""			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.919C>A	11.37:g.69063836C>A	ENSP00000308330:p.Leu307Ile	Somatic	1287	1.38	18		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	68820412	130	50.00	130	Q9UGN6|Q9UGN7	Missense_Mutation	SNP	NULL	p.L307I	ENST00000308946.3	37	c.919	CCDS8190.1	11	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.613296	0.00835	0.0	2.33E-4	ENSG00000172927	ENST00000441339;ENST00000308946;ENST00000535407	T;T;T	0.25250	1.81;1.81;1.81	0.761	-1.52	0.08637	.	.	.	.	.	T	0.11922	0.0290	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18147	-1.0346	9	0.87932	D	0	.	6.2599	0.20893	0.6536:0.3464:0.0:0.0	.	307	Q96EZ4	MYEOV_HUMAN	I	307;307;249	ENSP00000412482:L307I;ENSP00000308330:L307I;ENSP00000438100:L249I	ENSP00000308330:L307I	L	+	1	0	MYEOV	68820412	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.000000	0.00653	-2.447000	0.00545	-3.020000	0.00074	CTC	-	NULL		0.547	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	MYEOV	protein_coding	OTTHUMT00000396548.1	C			68820412	+1	no_errors	NM_138768.2	genbank	human	validated	54_36p	missense	SNP	0.000	A
EED	8726	genome.wustl.edu	37	11	85968591	85968591	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr11:85968591T>A	ENST00000263360.6	+	6	1273	c.587T>A	c.(586-588)cTg>cAg	p.L196Q	EED_ENST00000327320.4_Missense_Mutation_p.L196Q|EED_ENST00000528180.1_Missense_Mutation_p.L196Q|EED_ENST00000351625.6_Missense_Mutation_p.L196Q	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	196	Interaction with EZH2. {ECO:0000250}.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)	p.L196Q(3)		haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				ATCAATGAGCTGAAATTCCAT	0.323																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	11											98.0	88.0	92.0					11																	85968591		2202	4299	6501	85646239	SO:0001583	missense	0			AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"""WD repeat domain containing"""	3188	protein-coding gene	gene with protein product	"""WD protein associating with integrin cytoplasmic tails 1"""	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.587T>A	11.37:g.85968591T>A	ENSP00000263360:p.Leu196Gln	Somatic	662	0.30	2		37	45.59	31	WXS	Illumina HiSeq	Phase_IV	85646239	235	47.19	210	A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Missense_Mutation	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40	p.L196Q	ENST00000263360.6	37	c.587	CCDS8273.1	11	.	.	.	.	.	.	.	.	.	.	T	25.3	4.624096	0.87560	.	.	ENSG00000074266	ENST00000263360;ENST00000528180;ENST00000351625;ENST00000327320	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.31	5.31	0.75309	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.84165	0.5412	M	0.93898	3.47	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.998;1.0	D	0.88600	0.3149	9	.	.	.	-6.2779	15.5428	0.76070	0.0:0.0:0.0:1.0	.	196;196;196;196	O75530-3;E9PJK2;O75530-2;O75530	.;.;.;EED_HUMAN	Q	196	ENSP00000263360:L196Q;ENSP00000431778:L196Q;ENSP00000338186:L196Q;ENSP00000315587:L196Q	.	L	+	2	0	EED	85646239	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.693000	0.84214	2.136000	0.66102	0.533000	0.62120	CTG	-	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40		0.323	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EED	protein_coding	OTTHUMT00000393733.1	T	NM_003797		85646239	+1	no_errors	NM_003797.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
ASIC1	41	genome.wustl.edu	37	12	50452780	50452780	+	Silent	SNP	C	C	G	rs143760934	byFrequency	TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr12:50452780C>G	ENST00000447966.2	+	2	460	c.231C>G	c.(229-231)ctC>ctG	p.L77L	ASIC1_ENST00000228468.4_Silent_p.L77L	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	77					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)	p.L77L(3)								Amiloride(DB00594)|Diclofenac(DB00586)	TCACCAAGCTCGACGAGGTGG	0.572													C|||	10	0.00199681	0.0076	0.0	5008	,	,		20319	0.0		0.0	False		,,,				2504	0.0					dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	12						C	,	30,4376	36.0+/-67.5	0,30,2173	191.0	137.0	155.0		231,231	-1.5	1.0	12	dbSNP_134	155	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ACCN2	NM_001095.2,NM_020039.2	,	0,30,6473	GG,GC,CC		0.0,0.6809,0.2307	,	77/529,77/575	50452780	30,12976	2203	4300	6503	48739047	SO:0001819	synonymous_variant	0			U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.231C>G	12.37:g.50452780C>G		Somatic	1572	0.63	10		7	22.22	2	WXS	Illumina HiSeq	Phase_IV	48739047	355	48.10	329	A3KN86|E5KBL7|P78349|Q96CV2	Silent	SNP	HMMPfam_ASC,PatternScan_ASC	p.L77	ENST00000447966.2	37	c.231	CCDS44876.1	12																																																																																			-	HMMPfam_ASC		0.572	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ACCN2	protein_coding	OTTHUMT00000406004.2	C	NM_020039		48739047	+1	no_errors	NM_020039.2	genbank	human	reviewed	54_36p	silent	SNP	1.000	G
ACSS3	79611	genome.wustl.edu	37	12	81536902	81536902	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr12:81536902C>T	ENST00000548058.1	+	5	1707	c.797C>T	c.(796-798)gCt>gTt	p.A266V	ACSS3_ENST00000261206.3_Missense_Mutation_p.A265V			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	266						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)	p.A266V(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GTTCCTTTGGCTCCCGGTCGT	0.393																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	12											100.0	93.0	95.0					12																	81536902		2203	4300	6503	80061033	SO:0001583	missense	0				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.797C>T	12.37:g.81536902C>T	ENSP00000449535:p.Ala266Val	Somatic	533	0.187265917602996	1		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	80061033	256	47.3251028806584	230	Q8NC66	Missense_Mutation	SNP	HMMPfam_AMP-binding,PatternScan_AMP_BINDING,superfamily_Acetyl-CoA synthetase-like	p.A266V	ENST00000548058.1	37	c.797	CCDS9022.1	12	.	.	.	.	.	.	.	.	.	.	C	5.263	0.234014	0.09969	.	.	ENSG00000111058	ENST00000548058;ENST00000261206	T;T	0.42513	0.97;0.97	5.58	-1.34	0.09143	AMP-dependent synthetase/ligase (1);	1.410850	0.03652	N	0.241129	T	0.17534	0.0421	N	0.03177	-0.4	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10109	-1.0644	10	0.17369	T	0.5	0.4962	2.9114	0.05738	0.1177:0.2666:0.1163:0.4994	.	266	Q9H6R3	ACSS3_HUMAN	V	266;265	ENSP00000449535:A266V;ENSP00000261206:A265V	ENSP00000261206:A265V	A	+	2	0	ACSS3	80061033	0.000000	0.05858	0.001000	0.08648	0.597000	0.36814	-0.778000	0.04664	-0.192000	0.10432	0.561000	0.74099	GCT	-	HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like		0.393	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACSS3	protein_coding	OTTHUMT00000407794.1	C	NM_024560		80061033	+1	no_errors	NM_024560.2	genbank	human	validated	54_36p	missense	SNP	0.000	T
AP1G2	8906	genome.wustl.edu	37	14	24033309	24033309	+	Missense_Mutation	SNP	C	C	T	rs141367321	byFrequency	TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr14:24033309C>T	ENST00000308724.5	-	10	1792	c.1037G>A	c.(1036-1038)cGg>cAg	p.R346Q	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'Flank|AP1G2_ENST00000397120.3_Missense_Mutation_p.R346Q	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	346					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)	p.R346Q(3)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		GGGCCGATGCCGCTGCACAGC	0.582																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	14						C	GLN/ARG	0,4406		0,0,2203	75.0	55.0	62.0		1037	4.5	1.0	14	dbSNP_134	62	4,8596	3.7+/-12.6	0,4,4296	yes	missense	AP1G2	NM_003917.2	43	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	346/786	24033309	4,13002	2203	4300	6503	23103149	SO:0001583	missense	0			AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.1037G>A	14.37:g.24033309C>T	ENSP00000312442:p.Arg346Gln	Somatic	2568	1.34	35		66	52.86	74	WXS	Illumina HiSeq	Phase_IV	23103149	670	47.08	596	D3DS51|O75504	Missense_Mutation	SNP	HMMPfam_Adaptin_N,HMMPfam_Alpha_adaptinC2,HMMSmart_Alpha_adaptinC2,superfamily_Clath_adapt,superfamily_ARM-type_fold	p.R346Q	ENST00000308724.5	37	c.1037	CCDS9602.1	14	.	.	.	.	.	.	.	.	.	.	C	35	5.422910	0.96111	0.0	4.65E-4	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852	T;T	0.12569	2.67;2.67	4.47	4.47	0.54385	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	M	0.90082	3.085	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.53337	-0.8453	10	0.54805	T	0.06	-18.3189	14.6861	0.69049	0.0:1.0:0.0:0.0	.	346;201	O75843;Q86V28	AP1G2_HUMAN;.	Q	346;346;115;201	ENSP00000312442:R346Q;ENSP00000380309:R346Q	ENSP00000312442:R346Q	R	-	2	0	AP1G2	23103149	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.935000	0.75886	2.308000	0.77769	0.557000	0.71058	CGG	-	HMMPfam_Adaptin_N,superfamily_ARM-type_fold		0.582	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1G2	protein_coding	OTTHUMT00000071812.4	C	NM_003917		23103149	-1	no_errors	NM_003917.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
AGGF1P6	106481737	genome.wustl.edu	37	16	34723802	34723802	+	lincRNA	SNP	C	C	A			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr16:34723802C>A	ENST00000566562.1	-	0	960																											AAGTTGCTGTCAGTAAGTTTC	0.338																																						dbGAP											0			16																																								34581303			0																															16.37:g.34723802C>A		Somatic	1486	0.602006688963211	9		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	34581303	723	24.1343126967471	230		RNA	SNP	-	NULL	ENST00000566562.1	37	NULL		16																																																																																			-	-		0.338	RP11-80F22.14-001	KNOWN	basic	lincRNA	LOC100130041	lincRNA	OTTHUMT00000431377.1	C			34581303	+1	pseudogene	XR_037947.1	genbank	human	model	54_36p	rna	SNP	1.000	A
CTCF	10664	genome.wustl.edu	37	16	67660469	67660469	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr16:67660469C>T	ENST00000264010.4	+	8	1813	c.1369C>T	c.(1369-1371)Cga>Tga	p.R457*	CTCF_ENST00000401394.1_Nonsense_Mutation_p.R129*	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	457					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|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)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R457*(4)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TGTCCACTTGCGAAAGCAGCA	0.403																																					Colon(175;1200 1966 6945 23069 27405)	dbGAP											4	Substitution - Nonsense(4)	haematopoietic_and_lymphoid_tissue(3)|skin(1)	16											80.0	67.0	71.0					16																	67660469		2198	4300	6498	66217970	SO:0001587	stop_gained	0			U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1369C>T	16.37:g.67660469C>T	ENSP00000264010:p.Arg457*	Somatic	1876	0.64	12		68	18.07	15	WXS	Illumina HiSeq	Phase_IV	66217970	242	43.88	190	B5MC38|Q53XI7|Q59EL8	Nonsense_Mutation	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.R457*	ENST00000264010.4	37	c.1369	CCDS10841.1	16	.	.	.	.	.	.	.	.	.	.	C	38	7.235568	0.98154	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	.	.	.	5.48	-0.175	0.13315	.	0.000000	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.3646	17.4895	0.87699	0.6371:0.3629:0.0:0.0	.	.	.	.	X	457;129	.	ENSP00000264010:R457X	R	+	1	2	CTCF	66217970	0.997000	0.39634	0.994000	0.49952	0.979000	0.70002	0.564000	0.23563	-0.153000	0.11137	-0.268000	0.10319	CGA	-	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers		0.403	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTCF	protein_coding	OTTHUMT00000268870.2	C	NM_006565		66217970	+1	no_errors	NM_006565.2	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T
RPL13P12	388344	genome.wustl.edu	37	17	17287153	17287153	+	IGR	SNP	G	G	A	rs577640868	byFrequency	TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr17:17287153G>A								NT5M (36178 upstream) : Y_RNA (76604 downstream)																							GGCAGCACACGATGGGCCGGA	0.711																																						dbGAP											0			17																																								17227878	SO:0001628	intergenic_variant	0																															17.37:g.17287153G>A		Somatic	163	1.21212121212121	2		1231	0.00	0	WXS	Illumina HiSeq	Phase_IV	17227878	63	54.6762589928058	76		Missense_Mutation	SNP	NULL	p.D360N		37	c.1078		17																																																																																			-	NULL	0	0.711					LOC100130734			G			17227878	+1	no_errors	XM_001716348.1	genbank	human	model	54_36p	missense	SNP	0.028	A
NF1	4763	genome.wustl.edu	37	17	29562981	29562981	+	Nonsense_Mutation	SNP	C	C	T	rs376576925		TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr17:29562981C>T	ENST00000358273.4	+	29	4299	c.3916C>T	c.(3916-3918)Cga>Tga	p.R1306*	NF1_ENST00000356175.3_Nonsense_Mutation_p.R1306*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1306	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.R1306*(5)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCCTTTATTACGAATTGTGAT	0.363			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												dbGAP	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	17	Whole gene deletion(8)|Substitution - Nonsense(5)|Unknown(4)	soft_tissue(9)|haematopoietic_and_lymphoid_tissue(3)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	17	GRCh37	CM981381	NF1	M							140.0	130.0	134.0					17																	29562981		2203	4300	6503	26587107	SO:0001587	stop_gained	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.3916C>T	17.37:g.29562981C>T	ENSP00000351015:p.Arg1306*	Somatic	769	0.64	5		1	94.12	16	WXS	Illumina HiSeq	Phase_IV	26587107	43	84.19	229	O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	HMMSmart_SM00516,HMMPfam_RasGAP,HMMSmart_SM00323,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_GTPase activation domain GAP	p.R1306*	ENST00000358273.4	37	c.3916	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	C	46	12.668907	0.99687	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.94	2.6	0.31112	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4146	0.74956	0.589:0.411:0.0:0.0	.	.	.	.	X	1306;1306;972	.	ENSP00000348498:R1306X	R	+	1	2	NF1	26587107	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.385000	0.52485	0.763000	0.33175	0.557000	0.71058	CGA	-	HMMPfam_RasGAP,HMMSmart_SM00323,superfamily_GTPase activation domain GAP		0.363	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	protein_coding	OTTHUMT00000256351.2	C	NM_000267		26587107	+1	no_errors	NM_001042492.2	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T
SUZ12	23512	genome.wustl.edu	37	17	30293198	30293198	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr17:30293198G>A	ENST00000322652.5	+	5	717	c.488G>A	c.(487-489)gGt>gAt	p.G163D	SUZ12_ENST00000580398.1_Missense_Mutation_p.G140D|RNA5SP437_ENST00000517249.1_RNA	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	163					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.G163D(3)	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				ACGTTTACTGGTTTCTTCCAC	0.294			T	JAZF1	endometrial stromal tumours																																	dbGAP		Dom	yes		17	17q11.2	23512	suppressor of zeste 12 homolog (Drosophila)		M	3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	17											31.0	31.0	31.0					17																	30293198		2199	4290	6489	27317311	SO:0001583	missense	0			D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"""Zinc fingers, C2H2-type"""	17101	protein-coding gene	gene with protein product		606245	"""suppressor of zeste 12 homolog (Drosophila)"""			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.488G>A	17.37:g.30293198G>A	ENSP00000316578:p.Gly163Asp	Somatic	389	1.76767676767677	7		4	93.10	54	WXS	Illumina HiSeq	Phase_IV	27317311	10	89.5833333333333	86	Q96BD9	Missense_Mutation	SNP	PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,HMMPfam_VEFS-Box	p.G163D	ENST00000322652.5	37	c.488	CCDS11270.1	17	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357218	0.41801	.	.	ENSG00000178691	ENST00000322652	T	0.56275	0.47	4.71	4.71	0.59529	.	0.105878	0.64402	D	0.000004	T	0.58963	0.2159	L	0.56199	1.76	0.80722	D	1	D;D	0.63880	0.993;0.982	P;P	0.53266	0.722;0.706	T	0.56583	-0.7955	10	0.27082	T	0.32	-8.0667	15.8206	0.78638	0.0:0.0:1.0:0.0	.	163;163	A8K1U9;Q15022	.;SUZ12_HUMAN	D	163	ENSP00000316578:G163D	ENSP00000316578:G163D	G	+	2	0	SUZ12	27317311	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.493000	0.97960	2.128000	0.65567	0.385000	0.25706	GGT	-	NULL		0.294	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUZ12	protein_coding	OTTHUMT00000256260.2	G	NM_015355		27317311	+1	no_errors	NM_015355.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
KANSL1	284058	genome.wustl.edu	37	17	44108923	44108923	+	Silent	SNP	C	C	T			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr17:44108923C>T	ENST00000262419.6	-	15	3707	c.3237G>A	c.(3235-3237)gcG>gcA	p.A1079A	KANSL1_ENST00000575318.1_Silent_p.A1015A|KANSL1_ENST00000572904.1_Silent_p.A1079A|KANSL1_ENST00000432791.1_Silent_p.A1079A|KANSL1_ENST00000574590.1_Silent_p.A1079A|KANSL1_ENST00000393476.3_Silent_p.A373A	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	1079	Sufficient for interaction with KAT8.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.A1079A(3)									GCGAGGTGGGCGCTGCCTCTG	0.657																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	17											32.0	29.0	30.0					17																	44108923		2203	4300	6503	41464770	SO:0001819	synonymous_variant	0			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.3237G>A	17.37:g.44108923C>T		Somatic	1127	1.05	12		25	59.02	36	WXS	Illumina HiSeq	Phase_IV	41464770	296	49.83	296	A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Silent	SNP	NULL	p.A1079	ENST00000262419.6	37	c.3237	CCDS11503.1	17																																																																																			-	NULL		0.657	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KIAA1267	protein_coding	OTTHUMT00000440274.1	C	NM_015443		41464770	-1	no_errors	NM_015443.2	genbank	human	validated	54_36p	silent	SNP	0.003	T
PRAC1	84366	genome.wustl.edu	37	17	46801726	46801726	+	5'Flank	SNP	G	G	T			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr17:46801726G>T	ENST00000290294.3	-	0	0				PRAC2_ENST00000432056.1_RNA|PRAC2_ENST00000422730.2_RNA|MIR3185_ENST00000583892.1_RNA	NM_032391.2	NP_115767.1	Q96KF2	PRAC1_HUMAN	prostate cancer susceptibility candidate 1							nucleus (GO:0005634)											AGTGTGTGTGGGGGGGTCCAC	0.458											OREG0024525	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0			17																																								44156725	SO:0001631	upstream_gene_variant	0			AF331165	CCDS11535.1	17q21	2013-08-29	2013-08-29	2013-08-29	ENSG00000159182	ENSG00000159182			30591	protein-coding gene	gene with protein product	"""prostate, rectum and colon"""	609819	"""chromosome 17 open reading frame 92"", ""prostate cancer susceptibility candidate"""	C17orf92, PRAC		11340635	Standard	NM_032391		Approved		uc002iny.3	Q96KF2	OTTHUMG00000159899		17.37:g.46801726G>T	Exception_encountered	Somatic	608	0.33	2	942	NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	44156725	151	47.20	135		Missense_Mutation	SNP	NULL	p.G35V	ENST00000290294.3	37	c.104	CCDS11535.1	17																																																																																			-	NULL		0.458	PRAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100132903	protein_coding	OTTHUMT00000358086.1	G	NM_032391		44156725	+1	no_errors	XM_001726558.1	genbank	human	model	54_36p	missense	SNP	0.000	T
CILP2	148113	genome.wustl.edu	37	19	19650501	19650501	+	Silent	SNP	C	C	T			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr19:19650501C>T	ENST00000291495.5	+	2	163	c.78C>T	c.(76-78)acC>acT	p.T26T	CILP2_ENST00000586018.1_Silent_p.T26T	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	26						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.T26T(3)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCACCCCCACCGAGGAGCCAA	0.642																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	19											82.0	85.0	84.0					19																	19650501		2203	4300	6503	19511501	SO:0001819	synonymous_variant	0			AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.78C>T	19.37:g.19650501C>T		Somatic	434	2.9082774049217	13		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	19511501	211	42.032967032967	153	Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1,HMMSmart_IGc2,superfamily_CarboxypepD_reg,HMMPfam_I-set,superfamily_SSF48726	p.T26	ENST00000291495.5	37	c.78	CCDS12405.1	19																																																																																			-	NULL		0.642	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CILP2	protein_coding	OTTHUMT00000459738.3	C	NM_153221		19511501	+1	no_errors	NM_153221.2	genbank	human	validated	54_36p	silent	SNP	0.003	T
FFAR1	2864	genome.wustl.edu	37	19	35843150	35843150	+	Silent	SNP	G	G	A			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr19:35843150G>A	ENST00000246553.2	+	1	706	c.696G>A	c.(694-696)acG>acA	p.T232T		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	232					energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|positive regulation of GTPase activity (GO:0043547)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)	p.T232T(3)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	CCCTCCTCACGCTGCTGCTCT	0.701																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	19											14.0	12.0	12.0					19																	35843150		2126	4144	6270	40534990	SO:0001819	synonymous_variant	0			AF024687	CCDS12458.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000126266	ENSG00000126266		"""GPCR / Class A : Fatty acid receptors"""	4498	protein-coding gene	gene with protein product		603820	"""G protein-coupled receptor 40"""	GPR40		15684720	Standard	NM_005303		Approved	FFA1R	uc002nzc.2	O14842		ENST00000246553.2:c.696G>A	19.37:g.35843150G>A		Somatic	328	0.906344410876133	3		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	40534990	167	46.984126984127	148	Q0VAS2|Q4VBL4	Silent	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.T232	ENST00000246553.2	37	c.696	CCDS12458.1	19																																																																																			-	HMMPfam_7tm_1,superfamily_SSF81321		0.701	FFAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FFAR1	protein_coding	OTTHUMT00000466112.2	G	NM_005303		40534990	+1	no_errors	NM_005303.1	genbank	human	provisional	54_36p	silent	SNP	0.663	A
SHANK1	50944	genome.wustl.edu	37	19	51165404	51165404	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr19:51165404C>T	ENST00000293441.1	-	23	6322	c.6304G>A	c.(6304-6306)Gac>Aac	p.D2102N	SHANK1_ENST00000391813.1_Missense_Mutation_p.D1489N|SHANK1_ENST00000359082.3_Missense_Mutation_p.D2093N|SHANK1_ENST00000483981.2_5'Flank|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.D2110N	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2102	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.D2102N(3)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TCAGCCACGTCGAACTTGGTC	0.652																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	19											69.0	64.0	66.0					19																	51165404		2203	4300	6503	55857216	SO:0001583	missense	0			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.6304G>A	19.37:g.51165404C>T	ENSP00000293441:p.Asp2102Asn	Somatic	1108	0.09	1		6	45.45	5	WXS	Illumina HiSeq	Phase_IV	55857216	265	42.89	199	A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_SAM_1,HMMSmart_SM00454,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,superfamily_SAM/Pointed domain,HMMPfam_SH3_2	p.D2102N	ENST00000293441.1	37	c.6304	CCDS12799.1	19	.	.	.	.	.	.	.	.	.	.	c	14.01	2.406670	0.42715	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	3.56	3.56	0.40772	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.64402	U	0.000001	T	0.71375	0.3332	M	0.87900	2.915	0.53005	D	0.999963	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.78682	-0.2109	10	0.87932	D	0	.	14.4649	0.67477	0.0:1.0:0.0:0.0	.	2102;1489	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	N	2102;1489;2093;2110	ENSP00000293441:D2102N;ENSP00000375689:D1489N;ENSP00000351984:D2093N;ENSP00000375690:D2110N	ENSP00000293441:D2102N	D	-	1	0	SHANK1	55857216	1.000000	0.71417	0.973000	0.42090	0.972000	0.66771	7.459000	0.80802	2.011000	0.59026	0.450000	0.29827	GAC	-	HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain		0.652	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHANK1	protein_coding	OTTHUMT00000268071.1	C	NM_016148		55857216	-1	no_errors	NM_016148.2	genbank	human	validated	54_36p	missense	SNP	1.000	T
ZNF677	342926	genome.wustl.edu	37	19	53740371	53740371	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr19:53740371G>T	ENST00000598513.1	-	5	1759	c.1609C>A	c.(1609-1611)Cac>Aac	p.H537N	ZNF677_ENST00000333952.4_Missense_Mutation_p.H537N	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	537					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H537N(3)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TTTTCAATGTGTATTTTCTGG	0.318																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	19											132.0	126.0	128.0					19																	53740371		2203	4299	6502	58432183	SO:0001583	missense	0			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.1609C>A	19.37:g.53740371G>T	ENSP00000469391:p.His537Asn	Somatic	555	0.892857142857143	5		0	100.00	1	WXS	Illumina HiSeq	Phase_IV	58432183	223	40.2144772117962	150		Missense_Mutation	SNP	HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667	p.H537N	ENST00000598513.1	37	c.1609	CCDS12861.1	19	.	.	.	.	.	.	.	.	.	.	G	13.29	2.192029	0.38707	.	.	ENSG00000197928	ENST00000333952	T	0.70869	-0.52	2.12	2.12	0.27331	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35235	N	0.003360	T	0.80059	0.4554	M	0.84846	2.72	0.29494	N	0.855382	D	0.57571	0.98	P	0.56751	0.805	T	0.76332	-0.2998	10	0.87932	D	0	.	10.314	0.43725	0.0:0.0:1.0:0.0	.	537	Q86XU0	ZN677_HUMAN	N	537	ENSP00000334394:H537N	ENSP00000334394:H537N	H	-	1	0	ZNF677	58432183	1.000000	0.71417	0.047000	0.18901	0.776000	0.43924	6.008000	0.70739	1.509000	0.48786	0.591000	0.81541	CAC	-	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667		0.318	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF677	protein_coding	OTTHUMT00000464189.1	G	NM_182609		58432183	-1	no_errors	NM_182609.2	genbank	human	provisional	54_36p	missense	SNP	0.931	T
GDF5	8200	genome.wustl.edu	37	20	34022055	34022055	+	Silent	SNP	A	A	T			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr20:34022055A>T	ENST00000374372.1	-	4	1661	c.1158T>A	c.(1156-1158)acT>acA	p.T386T	GDF5OS_ENST00000374375.1_Silent_p.R33R|GDF5_ENST00000374369.3_Silent_p.T386T			P43026	GDF5_HUMAN	growth differentiation factor 5	386					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)	p.T386T(3)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TGCCCTGGCGAGTGGCCAGTG	0.577																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	20											77.0	80.0	79.0					20																	34022055		2203	4300	6503	33485469	SO:0001819	synonymous_variant	0			X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"""cartilage-derived morphogenetic protein-1"""	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.1158T>A	20.37:g.34022055A>T		Somatic	256	1.53846153846154	4		0	0.00	0	WXS	Illumina HiSeq	Phase_IV	33485469	114	43	86	E1P5Q2|Q96SB1	Silent	SNP	HMMPfam_TGFb_propeptide,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1,superfamily_SSF57501	p.T386	ENST00000374372.1	37	c.1158	CCDS13254.1	20																																																																																			-	NULL		0.577	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF5	protein_coding	OTTHUMT00000078875.2	A			33485469	-1	no_errors	NM_000557.2	genbank	human	reviewed	54_36p	silent	SNP	0.507	T
TTN	7273	genome.wustl.edu	37	2	179472757	179472758	+	In_Frame_Ins	INS	-	-	GAC			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	-	-	-	GAC	-	-	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr2:179472757_179472758insGAC	ENST00000591111.1	-	226	48057_48058	c.47833_47834insGTC	c.(47833-47835)att>aGTCtt	p.15945_15945I>SL	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_In_Frame_Ins_p.8713_8713I>SL|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_In_Frame_Ins_p.8646_8646I>SL|TTN_ENST00000460472.2_In_Frame_Ins_p.8521_8521I>SL|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_In_Frame_Ins_p.15018_15018I>SL|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_In_Frame_Ins_p.17586_17586I>SL			Q8WZ42	TITIN_HUMAN	titin	15945	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.I15018>SL(3)|p.I8713>SL(3)|p.I8521>SL(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTAGTTCAATAGTTGTAGAG	0.441																																						dbGAP											9	Complex - insertion inframe(9)	haematopoietic_and_lymphoid_tissue(9)	2																																								179181003	SO:0001652	inframe_insertion	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.47833_47834insGTC	2.37:g.179472757_179472758insGAC	ENSP00000465570:p.Ile15945delinsSerLeu	Somatic	978	0.71	7		11	0.00	0	WXS	Illumina HiSeq	Phase_IV	179181002	411	40.95	285	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	In_Frame_Ins	INS	HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_IG_MHC,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_PPAK,PatternScan_PROTEIN_KINASE_TYR,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Protein kinase-like (PK-like),superfamily_WD40 repeat-like,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,HMMPfam_Pkinase,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses	p.I13568in_frame_insSL	ENST00000591111.1	37	c.40703_40702		2																																																																																			-	HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses		0.441	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	-	NM_133378		179181003	-1	no_errors	ENST00000375038	ensembl	human	known	54_36p	in_frame_ins	INS	1.000:1.000	GAC
WAC	51322	genome.wustl.edu	37	10	28824670	28824671	+	Frame_Shift_Ins	INS	-	-	AGGGC			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	-	-	-	AGGGC	-	-	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr10:28824670_28824671insAGGGC	ENST00000354911.4	+	3	419_420	c.258_259insAGGGC	c.(259-261)agafs	p.-87fs	WAC_ENST00000375664.4_Frame_Shift_Ins_p.-42fs|WAC_ENST00000375646.1_Frame_Shift_Ins_p.-42fs|WAC_ENST00000428935.1_Frame_Shift_Ins_p.-42fs|WAC_ENST00000532233.1_3'UTR|WAC_ENST00000347934.4_Frame_Shift_Ins_p.-87fs|WAC-AS1_ENST00000527986.1_RNA	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)	p.E88fs*106(3)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						CTCACAGAGTTAGAGAGAGGGA	0.391																																						dbGAP											3	Insertion - Frameshift(3)	haematopoietic_and_lymphoid_tissue(3)	10																																								28864677	SO:0001589	frameshift_variant	0			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	Exception_encountered	10.37:g.28824670_28824671insAGGGC	ENSP00000346986:p.Arg87fs	Somatic	902	1.52838427947598	14		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	28864676	308	48.4087102177554	289	A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Frame_Shift_Ins	INS	HMMPfam_WW,HMMSmart_SM00456,PatternScan_WW_DOMAIN_1,superfamily_WW domain	p.E87fs	ENST00000354911.4	37	c.258_259	CCDS7159.1	10																																																																																			-	NULL		0.391	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	WAC	protein_coding	OTTHUMT00000047371.1	-	NM_100264		28864677	+1	no_errors	NM_016628.3	genbank	human	reviewed	54_36p	frame_shift_ins	INS	1.000:1.000	AGGGC
WT1	7490	genome.wustl.edu	37	11	32417909	32417910	+	Frame_Shift_Ins	INS	-	-	GACCG	rs377446096|rs142937387		TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	-	-	-	GACCG	-	-	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr11:32417909_32417910insGACCG	ENST00000379079.2	-	7	779_780	c.506_507insCGGTC	c.(505-507)tcgfs	p.-169fs	WT1_ENST00000332351.3_Frame_Shift_Ins_p.-381fs|WT1_ENST00000530998.1_Frame_Shift_Ins_p.-152fs|WT1_ENST00000448076.3_Frame_Shift_Ins_p.-381fs	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1						adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A314fs*69(11)|p.S313*(9)|p.S313fs*70(5)|p.A314fs*3(3)|p.A314fs*7(2)|p.V311fs*3(2)|p.A314fs*6(2)|p.S313fs*71(2)|p.L310fs*63(1)|p.P308fs*67(1)|p.S313del(1)|p.A314fs*68(1)|p.S313fs*4(1)|p.T309fs*4(1)|p.S313fs*6(1)|p.?fs(1)|p.A314fs*4(1)|p.A314fs*15(1)|p.S313fs*12(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TCTCAGATGCCGACCGTACAAG	0.52			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													dbGAP	yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	Wilms tumour 1 gene		O	47	Insertion - Frameshift(31)|Substitution - Nonsense(9)|Deletion - Frameshift(3)|Complex - frameshift(3)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(44)|kidney(3)	11	GRCh37	CM971595	WT1	M	rs142937387																																			32374486	SO:0001589	frameshift_variant	0	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.502_506dupCGGTC	11.37:g.32417910_32417914dupGACCG	ENSP00000368370:p.Ser169fs	Somatic	474	0.420168067226891	2		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	32374485	284	41.0788381742739	198	A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Frame_Shift_Ins	INS	HMMPfam_WT1,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.A382fs	ENST00000379079.2	37	c.1143_1142	CCDS55751.1	11																																																																																			-	HMMPfam_WT1		0.520	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WT1	protein_coding	OTTHUMT00000095434.1	-	NM_000378		32374486	-1	no_errors	NM_024426.3	genbank	human	reviewed	54_36p	frame_shift_ins	INS	0.771:0.996	GACCG
CTD-2572N17.1	0	genome.wustl.edu	37	11	42275262	42275262	+	lincRNA	DEL	A	A	-			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	A	A	A	-	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr11:42275262delA	ENST00000527757.1	-	0	0																											TCATCTGAGGAAAAAAAAAAT	0.423																																						dbGAP											0			11																																								42231838			0																															11.37:g.42275262delA		Somatic	623	3.70	24		0	0.00	0	WXS	Illumina HiSeq	Phase_IV	42231838	322	43.20	251		Frame_Shift_Del	DEL	NULL	p.S62fs	ENST00000527757.1	37	c.184		11																																																																																			-	NULL		0.423	CTD-2572N17.1-001	KNOWN	basic	lincRNA	LOC387761	lincRNA	OTTHUMT00000389473.1	A			42231838	-1	no_errors	XM_373495.1	genbank	human	model	54_36p	frame_shift_del	DEL	0.003	-
NUMA1	4926	genome.wustl.edu	37	11	71724450	71724451	+	Frame_Shift_Ins	INS	-	-	CCCC			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	-	-	-	CCCC	-	-	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr11:71724450_71724451insCCCC	ENST00000393695.3	-	15	4429_4430	c.4098_4099insGGGG	c.(4096-4101)ctctgcfs	p.C1367fs	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Frame_Shift_Ins_p.C1367fs|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1									p.C1367fs*18(3)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						AGCTGCTGGCAGAGGTGCTTAG	0.653			T	RARA	APL																																	dbGAP		Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	3	Insertion - Frameshift(3)	haematopoietic_and_lymphoid_tissue(3)	11																																								71402099	SO:0001589	frameshift_variant	0			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.4098_4099insGGGG	11.37:g.71724450_71724451insCCCC	ENSP00000377298:p.Cys1367fs	Somatic	264	1.12359550561798	3		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	71402098	120	36.5079365079365	69		Frame_Shift_Ins	INS	superfamily_Prefoldin	p.C1366fs	ENST00000393695.3	37	c.4099_4098	CCDS31633.1	11																																																																																			-	NULL		0.653	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMA1	protein_coding	OTTHUMT00000395769.1	-			71402099	-1	no_errors	NM_006185.2	genbank	human	validated	54_36p	frame_shift_ins	INS	0.996:0.977	CCCC
DNM2	1785	genome.wustl.edu	37	19	10909237	10909238	+	Frame_Shift_Ins	INS	-	-	GCCATCGT			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	-	-	-	GCCATCGT	-	-	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr19:10909237_10909238insGCCATCGT	ENST00000355667.6	+	11	1491_1492	c.1411_1412insGCCATCGT	c.(1411-1413)acgfs	p.T471fs	DNM2_ENST00000314646.5_Frame_Shift_Ins_p.T471fs|DNM2_ENST00000408974.4_Frame_Shift_Ins_p.T471fs|DNM2_ENST00000389253.4_Frame_Shift_Ins_p.T471fs|DNM2_ENST00000359692.6_Frame_Shift_Ins_p.T471fs|DNM2_ENST00000585892.1_Frame_Shift_Ins_p.T471fs	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	471					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)	p.T471fs*11(3)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GGAGGGGAGAACGAAGGACCAG	0.515			"""F, N, Splice, Mis, O"""		ETP ALL																																	dbGAP		Rec	yes		19	19p13.2	1785	dynamin 2		L	3	Insertion - Frameshift(3)	haematopoietic_and_lymphoid_tissue(3)	19																																								10770238	SO:0001589	frameshift_variant	0				CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		Exception_encountered	19.37:g.10909237_10909238insGCCATCGT	ENSP00000347890:p.Thr471fs	Somatic	457	1.08225108225108	5		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	10770237	246	37.4045801526718	147	A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Frame_Shift_Ins	INS	HMMPfam_Dynamin_M,HMMPfam_Dynamin_N,HMMSmart_SM00053,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_GED,HMMSmart_SM00302,PatternScan_DYNAMIN,superfamily_PH domain-like,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.T471fs	ENST00000355667.6	37	c.1411_1412	CCDS45968.1	19																																																																																			-	HMMPfam_Dynamin_M		0.515	DNM2-001	KNOWN	basic|CCDS	protein_coding	DNM2	protein_coding	OTTHUMT00000452592.1	-	NM_004945		10770238	+1	no_errors	NM_001005360.1	genbank	human	reviewed	54_36p	frame_shift_ins	INS	1.000:1.000	GCCATCGT
RUNX1	861	genome.wustl.edu	37	21	36252869	36252870	+	Frame_Shift_Ins	INS	-	-	GGCTA	rs200907577		TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	-	-	-	GGCTA	-	-	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr21:36252869_36252870insGGCTA	ENST00000344691.4	-	2	1988_1989	c.411_412insTAGCC	c.(409-414)gtcggtfs	p.G138fs	RUNX1_ENST00000399240.1_Frame_Shift_Ins_p.G138fs|RUNX1_ENST00000358356.5_Frame_Shift_Ins_p.G138fs|RUNX1_ENST00000325074.5_Frame_Shift_Ins_p.G153fs|RUNX1_ENST00000486278.2_Frame_Shift_Ins_p.G141fs|RUNX1_ENST00000300305.3_Frame_Shift_Ins_p.G165fs|RUNX1_ENST00000437180.1_Frame_Shift_Ins_p.G165fs	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	138	Interaction with DNA.|Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.G165fs*1(3)|p.G165fs*13(1)|p.V164_G165insG(1)|p.?(1)|p.G165C(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						CCACTTCGACCGACAAACCTGA	0.436			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	dbGAP		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	7	Insertion - Frameshift(4)|Substitution - Missense(1)|Unknown(1)|Insertion - In frame(1)	haematopoietic_and_lymphoid_tissue(7)	21																																								35174740	SO:0001589	frameshift_variant	0			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.411_412insTAGCC	21.37:g.36252869_36252870insGGCTA	ENSP00000340690:p.Gly138fs	Somatic	532	1.11524163568773	6		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	35174739	306	38.0566801619433	188	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Frame_Shift_Ins	INS	superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI	p.G164fs	ENST00000344691.4	37	c.493_492	CCDS42922.1	21																																																																																			-	superfamily_p53-like transcription factors,HMMPfam_Runt		0.436	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	protein_coding	OTTHUMT00000194230.1	-			35174740	-1	no_errors	NM_001754.2	genbank	human	reviewed	54_36p	frame_shift_ins	INS	1.000:1.000	GGCTA
