#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_ ensembl_gene_id	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_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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	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_ORegAnno_bin	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_dbSNP	i_default_gene_name	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_name_source	i_gene_type	i_havana_transcript	i_n_alt_count	i_n_alt_count_full	i_n_alt_count_val	i_n_ref_count	i_n_ref_count_full	i_n_ref_count_val	i_normal_vaf	i_normal_vaf_val	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_t_alt_count_full	i_t_alt_count_val	i_t_ref_count_full	i_t_ref_count_val	i_tier	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_vaf	i_tumor_vaf_val	i_type	i_ucsc_cons	i_variant	t_alt_count	t_ref_count
CTNND2	1501	genome.wustl.edu	37	5	10973228	10973228	+	3'UTR	SNP	G	G	A			TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr5:10973228G>A	ENST00000304623.8	-	0	4204				CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_3'UTR|CTNND2_ENST00000511377.1_3'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2						cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGTGCTTAACGATAACCCTTA	0.498													ENSG00000169862																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.*337C>T	5.37:g.10973228G>A			B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	R	SNP	-	NULL	ENST00000304623.8	37	NULL	CCDS3881.1	5																																																																																			-	CTNND2	-	-		0.498	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	HGNC	protein_coding	OTTHUMT00000206999.1	0	0	0	17	17	102	0.00	0.00	G	NM_001332		10973228	-1	27	42	23	56	tier1	no_errors	ENST00000495388	ensembl	human	known	74_37	rna	54.00	42.86	SNP	0.001	A	27	23
PIEZO1	9780	genome.wustl.edu	37	16	88809844	88809844	+	Intron	SNP	A	A	C			TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr16:88809844A>C	ENST00000301015.9	-	3	407				RP5-1142A6.7_ENST00000566114.1_RNA|RP5-1142A6.8_ENST00000333666.1_RNA|RP5-1142A6.8_ENST00000567588.1_RNA|RP5-1142A6.2_ENST00000567968.1_RNA	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						CCCGGCCACGAGAAAGTGCAG	0.627													ENSG00000182376																																					0																																										SO:0001627	intron_variant	0			-	D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.161-1014T>G	16.37:g.88809844A>C			A6NHT9|A7E2B7|Q0KKZ9	R	SNP	-	NULL	ENST00000301015.9	37	NULL	CCDS54058.1	16	.	.	.	.	.	.	.	.	.	.	A	5.753	0.323380	0.10900	.	.	ENSG00000182376	ENST00000333666	.	.	.	1.36	1.36	0.22044	.	.	.	.	.	T	0.38612	0.1047	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.36939	-0.9727	5	0.87932	D	0	.	4.7504	0.13057	1.0:0.0:0.0:0.0	.	.	.	.	A	159	.	ENSP00000327620:E159A	E	+	2	0	AC138028.1	87337345	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.643000	0.05421	0.619000	0.30197	0.260000	0.18958	GAG	-	RP5-1142A6.8	-	-		0.627	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	FLJ40448	Clone_based_vega_gene	protein_coding	OTTHUMT00000345699.4	0	0	0	43	43	61	0.00	0.00	A	NM_014745		88809844	+1	22	30	39	31	tier1	no_errors	ENST00000333666	ensembl	human	known	74_37	rna	36.07	49.18	SNP	0.001	C	22	39
TRPV6	55503	genome.wustl.edu	37	7	142569542	142569542	+	Missense_Mutation	SNP	C	C	T			TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr7:142569542C>T	ENST00000359396.3	-	15	2341	c.2096G>A	c.(2095-2097)cGg>cAg	p.R699Q		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	699	Interaction with calmodulin.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)	p.R699P(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GGTCCCTTGCCGAAGCCTTTC	0.577													ENSG00000165125																																					1	Substitution - Missense(1)	lung(1)											68.0	67.0	67.0					7																	142569542		2203	4300	6503	SO:0001583	missense	0			-	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.2096G>A	7.37:g.142569542C>T	ENSP00000352358:p.Arg699Gln		A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel	p.R699Q	ENST00000359396.3	37	c.2096	CCDS5874.1	7	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929884	0.92389	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	D	0.83075	-1.68	5.41	5.41	0.78517	.	0.137650	0.49305	D	0.000148	D	0.91442	0.7299	M	0.83223	2.63	0.41873	D	0.990287	D	0.89917	1.0	D	0.91635	0.999	D	0.91807	0.5456	10	0.49607	T	0.09	-30.0857	16.3396	0.83078	0.0:1.0:0.0:0.0	.	699	Q9H1D0	TRPV6_HUMAN	Q	699;531	ENSP00000352358:R699Q	ENSP00000310825:R531Q	R	-	2	0	TRPV6	142279664	0.962000	0.33011	0.875000	0.34327	0.806000	0.45545	2.535000	0.45685	2.542000	0.85734	0.561000	0.74099	CGG	-	TRPV6	-	prints_TRPV6_channel,tigrfam_TRP_channel		0.577	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV6	HGNC	protein_coding	OTTHUMT00000347662.1	0	0	0	66	66	98	0.00	0.00	C	NM_014274		142569542	-1	38	26	46	50	tier1	no_errors	ENST00000359396	ensembl	human	known	74_37	missense	45.24	34.21	SNP	0.904	T	38	46
EIF4A3	9775	genome.wustl.edu	37	17	78111251	78111251	+	Missense_Mutation	SNP	G	G	A			TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr17:78111251G>A	ENST00000269349.3	-	9	1138	c.917C>T	c.(916-918)tCa>tTa	p.S306L		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	306	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cytokine-mediated signaling pathway (GO:0019221)|embryonic cranial skeleton morphogenesis (GO:0048701)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|mRNA binding (GO:0003729)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			TCCATGCATTGAGGATACAGT	0.532													ENSG00000141543																																					0													147.0	113.0	124.0					17																	78111251		2203	4300	6503	SO:0001583	missense	0			-	BC004386	CCDS11767.1	17q25.3	2010-02-10	2010-02-10	2006-11-27		ENSG00000141543		"""DEAD-boxes"""	18683	protein-coding gene	gene with protein product		608546	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 48"", ""eukaryotic translation initiation factor 4A, isoform 3"""	DDX48		10623621, 14730019	Standard	NM_014740		Approved	KIAA0111, EIF4AIII	uc002jxs.3	P38919		ENST00000269349.3:c.917C>T	17.37:g.78111251G>A	ENSP00000269349:p.Ser306Leu		Q15033|Q6IBQ2|Q96A18	Missense_Mutation	SNP	pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_R_helicase_DEAD_Q_motif	p.S306L	ENST00000269349.3	37	c.917	CCDS11767.1	17	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456867	0.63401	.	.	ENSG00000141543	ENST00000269349	T	0.74947	-0.89	4.48	4.48	0.54585	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.64627	0.2615	N	0.05330	-0.07	0.80722	D	1	P	0.41978	0.767	P	0.47915	0.561	T	0.72883	-0.4157	10	0.87932	D	0	-18.4711	14.6759	0.68978	0.0:0.0:1.0:0.0	.	306	P38919	IF4A3_HUMAN	L	306	ENSP00000269349:S306L	ENSP00000269349:S306L	S	-	2	0	EIF4A3	75725846	1.000000	0.71417	0.521000	0.27850	0.157000	0.22087	7.317000	0.79018	2.333000	0.79357	0.650000	0.86243	TCA	-	EIF4A3	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C		0.532	EIF4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A3	HGNC	protein_coding	OTTHUMT00000437446.1	0	0	0	37	37	113	0.00	0.00	G	NM_014740		78111251	-1	26	26	45	44	tier1	no_errors	ENST00000269349	ensembl	human	known	74_37	missense	36.62	37.14	SNP	0.986	A	26	45
RNF213	57674	genome.wustl.edu	37	17	78337533	78337533	+	Missense_Mutation	SNP	C	C	T			TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr17:78337533C>T	ENST00000582970.1	+	41	11836	c.11693C>T	c.(11692-11694)tCc>tTc	p.S3898F	RNF213_ENST00000508628.2_Missense_Mutation_p.S3947F|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.S1971F	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3898					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTCATCTGCTCCGATGAGCAC	0.612													ENSG00000173821																																					0													67.0	47.0	54.0					17																	78337533		2203	4300	6503	SO:0001583	missense	0			-	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.11693C>T	17.37:g.78337533C>T	ENSP00000464087:p.Ser3898Phe		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.S3898F	ENST00000582970.1	37	c.11693	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	C	14.64	2.594943	0.46318	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.25749	1.78	5.03	5.03	0.67393	.	0.660669	0.14902	N	0.291741	T	0.51295	0.1666	M	0.77616	2.38	0.23537	N	0.99746	D;D	0.67145	0.996;0.995	D;P	0.65874	0.939;0.862	T	0.45731	-0.9241	10	0.87932	D	0	.	14.2193	0.65815	0.159:0.841:0.0:0.0	.	3947;1971	C9JCP4;Q63HN8	.;RN213_HUMAN	F	3898;3947;1971	ENSP00000338218:S1971F	ENSP00000338218:S1971F	S	+	2	0	RNF213	75952128	0.422000	0.25473	0.025000	0.17156	0.002000	0.02628	3.618000	0.54188	2.327000	0.79052	0.655000	0.94253	TCC	-	RNF213	-	superfamily_P-loop_NTPase		0.612	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	0	0	0	30	30	38	0.00	0.00	C	NM_020914		78337533	+1	26	13	26	19	tier1	no_errors	ENST00000582970	ensembl	human	known	74_37	missense	50.00	40.62	SNP	0.550	T	26	26
TENM2	57451	genome.wustl.edu	37	5	167622271	167622271	+	Silent	SNP	C	C	T	rs375197936		TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr5:167622271C>T	ENST00000518659.1	+	15	2910	c.2871C>T	c.(2869-2871)taC>taT	p.Y957Y	TENM2_ENST00000545108.1_Silent_p.Y957Y|TENM2_ENST00000519204.1_Silent_p.Y836Y|TENM2_ENST00000403607.2_Silent_p.Y781Y|TENM2_ENST00000520394.1_Silent_p.Y725Y	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	957					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										ACCCAAAATACGGCTACACCA	0.532													ENSG00000145934																																					0								C		0,3948		0,0,1974	76.0	80.0	78.0		2844	-4.4	0.8	5		78	1,8327		0,1,4163	no	coding-synonymous	ODZ2	NM_001122679.1		0,1,6137	TT,TC,CC		0.012,0.0,0.0081		948/2766	167622271	1,12275	1974	4164	6138	SO:0001819	synonymous_variant	0			-	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.2871C>T	5.37:g.167622271C>T			Q9ULU2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.Y957	ENST00000518659.1	37	c.2871		5																																																																																			-	TENM2	-	superfamily_CarboxyPept-like_regulatory,superfamily_ConA-like_lec_gl_sf		0.532	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1	0	0	0	109	109	108	0.00	0.00	C	NM_001122679		167622271	+1	81	40	131	39	tier1	no_errors	ENST00000518659	ensembl	human	known	74_37	silent	37.85	50.63	SNP	0.435	T	81	131
SLC22A8	9376	genome.wustl.edu	37	11	62767307	62767307	+	Missense_Mutation	SNP	G	G	A	rs45566039		TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr11:62767307G>A	ENST00000336232.2	-	4	580	c.445C>T	c.(445-447)Cgc>Tgc	p.R149C	SLC22A8_ENST00000311438.8_Missense_Mutation_p.R149C|SLC22A8_ENST00000545207.1_Missense_Mutation_p.R58C|SLC22A8_ENST00000430500.2_Missense_Mutation_p.R149C|SLC22A8_ENST00000535878.1_Missense_Mutation_p.R26C|SLC22A8_ENST00000542795.1_5'UTR	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	149			R -> S (complete loss of function; dbSNP:rs45566039). {ECO:0000269|PubMed:16291576}.		glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	ATGGGCCTGCGGCCAAACCTG	0.627													ENSG00000149452																																					0													32.0	33.0	32.0					11																	62767307		2201	4298	6499	SO:0001583	missense	0			-	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.445C>T	11.37:g.62767307G>A	ENSP00000337335:p.Arg149Cys		B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.R149C	ENST00000336232.2	37	c.445	CCDS8042.1	11	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475720	0.63737	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000311438;ENST00000430500	D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85	5.31	3.25	0.37280	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.056144	0.64402	D	0.000001	D	0.93625	0.7964	H	0.97051	3.93	0.54753	D	0.999981	D;D	0.63880	0.992;0.993	P;D	0.64877	0.885;0.93	D	0.93871	0.7162	10	0.72032	D	0.01	.	9.8815	0.41236	0.0:0.0:0.6286:0.3714	.	149;149	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	C	149;135;58;26;149;149	ENSP00000337335:R149C;ENSP00000441658:R58C;ENSP00000443368:R26C;ENSP00000311463:R149C;ENSP00000398548:R149C	ENSP00000311463:R149C	R	-	1	0	SLC22A8	62523883	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	4.824000	0.62701	1.175000	0.42826	0.511000	0.50034	CGC	-	SLC22A8	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp		0.627	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A8	HGNC	protein_coding	OTTHUMT00000396191.1	0	0	0	70	70	34	0.00	0.00	G	NM_004254		62767307	-1	46	13	63	12	tier1	no_errors	ENST00000336232	ensembl	human	known	74_37	missense	41.82	52.00	SNP	0.998	A	46	63
GRIN3A	116443	genome.wustl.edu	37	9	104449124	104449124	+	Missense_Mutation	SNP	C	C	T			TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr9:104449124C>T	ENST00000361820.3	-	2	1658	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	353					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CAGCACCCAACGAAGTTCAGG	0.512													ENSG00000198785																																					0													66.0	61.0	63.0					9																	104449124		2203	4300	6503	SO:0001583	missense	0			-		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1058G>A	9.37:g.104449124C>T	ENSP00000355155:p.Arg353His		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	p.R353H	ENST00000361820.3	37	c.1058	CCDS6758.1	9	.	.	.	.	.	.	.	.	.	.	C	4.594	0.110366	0.08780	.	.	ENSG00000198785	ENST00000361820	D	0.85955	-2.05	5.83	-11.7	0.00046	.	0.446510	0.23680	N	0.045624	T	0.47911	0.1471	N	0.00583	-1.355	0.21290	N	0.99974	B	0.02656	0.0	B	0.04013	0.001	T	0.53528	-0.8426	10	0.14656	T	0.56	.	13.1343	0.59402	0.0:0.5432:0.0946:0.3622	.	353	Q8TCU5	NMD3A_HUMAN	H	353	ENSP00000355155:R353H	ENSP00000355155:R353H	R	-	2	0	GRIN3A	103488945	0.904000	0.30761	0.002000	0.10522	0.566000	0.35808	0.154000	0.16343	-2.853000	0.00330	-1.008000	0.02478	CGT	-	GRIN3A	-	superfamily_Peripla_BP_I		0.512	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3A	HGNC	protein_coding	OTTHUMT00000053453.1	0	0	0	70	70	140	0.00	0.00	C			104449124	-1	62	45	48	42	tier1	no_errors	ENST00000361820	ensembl	human	known	74_37	missense	55.86	51.72	SNP	0.139	T	62	48
ARHGEF37	389337	genome.wustl.edu	37	5	149001584	149001584	+	Missense_Mutation	SNP	G	G	T			TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr5:149001584G>T	ENST00000333677.6	+	9	1457	c.1294G>T	c.(1294-1296)Gca>Tca	p.A432S		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	432	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GAGGGACCTTGCAAAGCAAGT	0.602													ENSG00000183111																																					0													31.0	37.0	35.0					5																	149001584		2086	4225	6311	SO:0001583	missense	0			-	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"""Rho guanine nucleotide exchange factors"""	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.1294G>T	5.37:g.149001584G>T	ENSP00000328083:p.Ala432Ser		Q6ZW51	Missense_Mutation	SNP	pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain	p.A432S	ENST00000333677.6	37	c.1294	CCDS43385.1	5	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212387	0.58452	.	.	ENSG00000183111	ENST00000333677	T	0.63580	-0.05	6.06	4.25	0.50352	BAR (2);	0.268905	0.41712	N	0.000837	T	0.75917	0.3915	M	0.79805	2.47	0.53005	D	0.999968	D	0.62365	0.991	P	0.60609	0.877	T	0.74612	-0.3607	10	0.22706	T	0.39	-0.8588	15.2436	0.73490	0.0:0.0:0.7426:0.2574	.	432	A1IGU5	ARH37_HUMAN	S	432	ENSP00000328083:A432S	ENSP00000328083:A432S	A	+	1	0	ARHGEF37	148981777	1.000000	0.71417	0.225000	0.23894	0.261000	0.26267	5.954000	0.70298	0.863000	0.35553	-0.181000	0.13052	GCA	-	ARHGEF37	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom		0.602	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF37	HGNC	protein_coding	OTTHUMT00000373763.1	0	0	0	40	40	57	0.00	0.00	G	NM_001001669		149001584	+1	16	11	44	24	tier1	no_errors	ENST00000333677	ensembl	human	known	74_37	missense	26.67	31.43	SNP	1.000	T	16	44
SAMD13	148418	genome.wustl.edu	37	1	84815493	84815493	+	3'UTR	SNP	C	C	T			TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr1:84815493C>T	ENST00000370671.3	+	0	464				SAMD13_ENST00000370670.2_3'UTR|SAMD13_ENST00000370668.3_3'UTR|SAMD13_ENST00000370673.3_3'UTR|SAMD13_ENST00000370669.1_3'UTR|SAMD13_ENST00000370667.3_3'UTR|RP11-376N17.4_ENST00000505585.1_RNA|SAMD13_ENST00000394834.3_3'UTR			Q5VXD3	SAM13_HUMAN	sterile alpha motif domain containing 13											lung(4)	4				all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136)		TCAAAAAATACATAATGACAT	0.294													ENSG00000249237																																					0													44.0	47.0	46.0					1																	84815493		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			-		CCDS30760.1, CCDS44166.1	1p31.1	2013-01-10			ENSG00000203943	ENSG00000203943		"""Sterile alpha motif (SAM) domain containing"""	24582	protein-coding gene	gene with protein product							Standard	NM_001010971		Approved		uc001djr.3	Q5VXD3	OTTHUMG00000009859	ENST00000370671.3:c.*36C>T	1.37:g.84815493C>T			B3KPW8|D3DT11|Q53AI4|Q5VXD2|Q5VXD4	R	SNP	-	NULL	ENST00000370671.3	37	NULL		1																																																																																			-	RP11-376N17.4	-	-		0.294	SAMD13-003	KNOWN	basic	protein_coding	ENSG00000249237	Clone_based_vega_gene	protein_coding	OTTHUMT00000027243.1	0	0	0	35	35	75	0.00	0.00	C	NM_001010971		84815493	+1	33	20	40	31	tier1	no_errors	ENST00000505585	ensembl	human	known	74_37	rna	45.21	39.22	SNP	1.000	T	33	40
DNAH14	127602	genome.wustl.edu	37	1	225525169	225525169	+	Missense_Mutation	SNP	A	A	G			TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr1:225525169A>G	ENST00000445597.2	+	45	7687	c.7687A>G	c.(7687-7689)Atg>Gtg	p.M2563V	DNAH14_ENST00000439375.2_Missense_Mutation_p.M3335V|DNAH14_ENST00000430092.1_Missense_Mutation_p.M3335V			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	2563					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						TGAAAATGCTATGAAGACAGG	0.448													ENSG00000185842																																					0													40.0	37.0	38.0					1																	225525169		692	1591	2283	SO:0001583	missense	0			-	U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.7687A>G	1.37:g.225525169A>G	ENSP00000409472:p.Met2563Val		A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase	p.M3335V	ENST00000445597.2	37	c.10003		1	.	.	.	.	.	.	.	.	.	.	A	9.427	1.084471	0.20309	.	.	ENSG00000185842	ENST00000445597;ENST00000430092;ENST00000439375	T;T;T	0.18960	2.18;2.18;2.18	5.09	3.95	0.45737	.	0.759389	0.11210	N	0.587765	T	0.13713	0.0332	N	0.11818	0.18	0.80722	D	1	B	0.32653	0.379	B	0.34652	0.187	T	0.09015	-1.0694	10	0.38643	T	0.18	.	10.2046	0.43105	0.9186:0.0:0.0814:0.0	.	3335	Q0VDD8-4	.	V	2563;3335;3335	ENSP00000409472:M2563V;ENSP00000414402:M3335V;ENSP00000392061:M3335V	ENSP00000414402:M3335V	M	+	1	0	DNAH14	223591792	0.891000	0.30450	0.386000	0.26170	0.961000	0.63080	1.395000	0.34520	0.876000	0.35872	0.438000	0.28831	ATG	-	DH14	-	NULL		0.448	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DH14	HGNC	protein_coding	OTTHUMT00000331217.3	0	0	0	60	60	60	0.00	0.00	A	XM_059166		225525169	+1	53	27	58	33	tier1	no_errors	ENST00000430092	ensembl	human	known	74_37	missense	47.75	45.00	SNP	0.997	G	53	58
TTN	7273	genome.wustl.edu	37	2	179598041	179598041	+	Missense_Mutation	SNP	C	C	T			TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr2:179598041C>T	ENST00000591111.1	-	52	15252	c.15028G>A	c.(15028-15030)Gac>Aac	p.D5010N	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.D5327N|TTN_ENST00000342992.6_Missense_Mutation_p.D4083N|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12389	Ig-like 30.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGCCACTGTCGTGCAGCTCA	0.398													ENSG00000155657																																					0													91.0	89.0	89.0					2																	179598041		1854	4106	5960	SO:0001583	missense	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.15028G>A	2.37:g.179598041C>T	ENSP00000465570:p.Asp5010Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.D4083N	ENST00000591111.1	37	c.12247		2	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920557	0.52653	.	.	ENSG00000155657	ENST00000342992	T	0.80994	-1.44	5.86	5.86	0.93980	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.93618	0.7962	H	0.96547	3.84	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94846	0.8009	9	0.87932	D	0	.	20.1876	0.98223	0.0:1.0:0.0:0.0	.	5010	Q8WZ42	TITIN_HUMAN	N	4083	ENSP00000343764:D4083N	ENSP00000343764:D4083N	D	-	1	0	TTN	179306286	1.000000	0.71417	0.251000	0.24312	0.813000	0.45954	7.814000	0.86154	2.765000	0.95021	0.655000	0.94253	GAC	-	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	0	0	0	39	39	124	0.00	0.00	C	NM_133378		179598041	-1	20	24	51	57	tier1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	28.17	29.63	SNP	1.000	T	20	51
ABCA9	10350	genome.wustl.edu	37	17	66988407	66988407	+	Splice_Site	SNP	G	G	A			TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr17:66988407G>A	ENST00000340001.4	-	28	3836	c.3625C>T	c.(3625-3627)Cct>Tct	p.P1209S	ABCA9_ENST00000453985.2_Splice_Site_p.P1171S|ABCA9_ENST00000370732.2_Splice_Site_p.P1209S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1209					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TGAAGGTAAGGCTAGGGAAAA	0.308													ENSG00000154258																																					0																																										SO:0001630	splice_region_variant	0			-	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.3625-1C>T	17.37:g.66988407G>A			Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.P1209S	ENST00000340001.4	37	c.3625	CCDS11681.1	17	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301610	0.60195	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732	D;D	0.86497	-2.13;-2.13	5.4	4.44	0.53790	.	0.000000	0.47455	D	0.000235	D	0.92691	0.7677	M	0.81614	2.55	0.46113	D	0.998876	D;D	0.69078	0.997;0.965	P;D	0.68192	0.902;0.956	D	0.93103	0.6510	10	0.62326	D	0.03	.	13.0531	0.58966	0.0774:0.0:0.9226:0.0	.	1209;1209	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	S	1209;1154;1209	ENSP00000342216:P1209S;ENSP00000359767:P1209S	ENSP00000342216:P1209S	P	-	1	0	ABCA9	64500002	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	5.284000	0.65627	1.293000	0.44690	0.591000	0.81541	CCT	-	ABCA9	-	NULL		0.308	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA9	HGNC	protein_coding	OTTHUMT00000277072.2	0	0	0	118	118	139	0.00	0.00	G	NM_172386	Missense_Mutation	66988407	-1	66	35	121	70	tier1	no_errors	ENST00000340001	ensembl	human	known	74_37	missense	35.29	33.33	SNP	1.000	A	66	121
SMOC2	64094	genome.wustl.edu	37	6	168999641	168999641	+	Missense_Mutation	SNP	G	G	A	rs554225332		TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr6:168999641G>A	ENST00000356284.2	+	8	1001	c.781G>A	c.(781-783)Gtc>Atc	p.V261I	SMOC2_ENST00000354536.5_Missense_Mutation_p.V272I	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	261	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CTGCTGGTGCGTCCTGGTGGA	0.647													ENSG00000112562																																					0													62.0	50.0	54.0					6																	168999641		2203	4299	6502	SO:0001583	missense	0			-	AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"""EF-hand domain containing"""	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.781G>A	6.37:g.168999641G>A	ENSP00000348630:p.Val261Ile		B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_EF_hand_dom,pfscan_Thyroglobulin_1	p.V272I	ENST00000356284.2	37	c.814	CCDS55076.1	6	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758532	0.89843	.	.	ENSG00000112562	ENST00000356284;ENST00000354536;ENST00000366793	T;T	0.79352	-1.26;-1.26	4.89	4.89	0.63831	Thyroglobulin type-1 (5);EF-hand-like domain (1);	0.244803	0.33327	N	0.005038	D	0.89319	0.6681	M	0.91612	3.225	0.58432	D	0.99999	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.991	D	0.91846	0.5487	10	0.87932	D	0	-0.028	17.1175	0.86694	0.0:0.0:1.0:0.0	.	261;272	Q9H3U7;Q9H3U7-2	SMOC2_HUMAN;.	I	261;272;261	ENSP00000348630:V261I;ENSP00000346537:V272I	ENSP00000346537:V272I	V	+	1	0	SMOC2	168741566	1.000000	0.71417	0.996000	0.52242	0.689000	0.40095	8.993000	0.93524	2.268000	0.75426	0.386000	0.25728	GTC	-	SMOC2	-	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1		0.647	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMOC2	HGNC	protein_coding	OTTHUMT00000043201.1	0	0	0	38	38	41	0.00	0.00	G			168999641	+1	38	21	64	17	tier1	no_errors	ENST00000354536	ensembl	human	known	74_37	missense	37.25	55.26	SNP	1.000	A	38	64
WFIKKN1	117166	genome.wustl.edu	37	16	683788	683788	+	Missense_Mutation	SNP	G	G	A			TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr16:683788G>A	ENST00000319070.2	+	2	1700	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	460	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				CGTGGCGCTCGAGGACGTGCT	0.687													ENSG00000127578																																					0													55.0	31.0	39.0					16																	683788		2172	4287	6459	SO:0001583	missense	0			-	AK075356	CCDS10414.1	16p13	2013-01-21			ENSG00000127578	ENSG00000127578		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30912	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20A"""	608021	"""chromosome 16 open reading frame 12"""	C16orf12		11274388, 11928817	Standard	NM_053284		Approved	RJD2, WFIKKN, WFDC20A	uc002cht.1	Q96NZ8	OTTHUMG00000090359	ENST00000319070.2:c.1378G>A	16.37:g.683788G>A	ENSP00000324763:p.Glu460Lys		Q7LDW0|Q8NBQ1|Q96S20	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Ig_V-set,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Immunoglobulin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m	p.E460K	ENST00000319070.2	37	c.1378	CCDS10414.1	16	.	.	.	.	.	.	.	.	.	.	g	15.21	2.765717	0.49574	.	.	ENSG00000127578	ENST00000319070	T	0.19938	2.11	5.31	5.31	0.75309	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (1);	0.320980	0.32416	N	0.006127	T	0.22166	0.0534	L	0.54323	1.7	0.38726	D	0.953551	P	0.36944	0.574	B	0.28784	0.094	T	0.11203	-1.0597	10	0.66056	D	0.02	.	17.9467	0.89040	0.0:0.0:1.0:0.0	.	460	Q96NZ8	WFKN1_HUMAN	K	460	ENSP00000324763:E460K	ENSP00000324763:E460K	E	+	1	0	WFIKKN1	623789	1.000000	0.71417	0.097000	0.21041	0.009000	0.06853	7.665000	0.83852	2.480000	0.83734	0.556000	0.70494	GAG	-	WFIKKN1	-	pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,pfscan_Netrin_domain		0.687	WFIKKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFIKKN1	HGNC	protein_coding	OTTHUMT00000206731.2	0	0	0	54	54	61	0.00	0.00	G	NM_053284		683788	+1	62	10	56	15	tier1	no_errors	ENST00000319070	ensembl	human	known	74_37	missense	52.54	40.00	SNP	0.994	A	62	56
ACTN2	88	genome.wustl.edu	37	1	236911194	236911194	+	Intron	DEL	C	C	-			TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr1:236911194delC	ENST00000366578.4	+	13	1681				ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000542672.1_Intron	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2						blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GTGAAAGGAACCTCTAAAGAA	0.358													ENSG00000077522																																					0																																										SO:0001627	intron_variant	0				BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1515+119C>-	1.37:g.236911194delC			B1ANE4|B2RCS5|Q86TF4|Q86TI8	R	DEL	-	NULL	ENST00000366578.4	37	NULL	CCDS1613.1	1																																																																																				ACTN2	-	-		0.358	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACTN2	HGNC	protein_coding	OTTHUMT00000096628.1	0	0	0	26	26	166	0.00	0.00	C	NM_001103		236911194	+1	20	57	32	66	tier1	no_errors	ENST00000492101	ensembl	human	known	74_37	rna	38.46	46.34	DEL	0.000	-	20	32
CCDC141	285025	genome.wustl.edu	37	2	179721056	179721057	+	Frame_Shift_Ins	INS	-	-	T			TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr2:179721056_179721057insT	ENST00000420890.2	-	18	2909_2910	c.2792_2793insA	c.(2791-2793)aatfs	p.N931fs	CCDC141_ENST00000295723.5_Frame_Shift_Ins_p.N356fs	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	931										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GAGATTTTTCATTTTTCTTAGT	0.292													ENSG00000163492																																					0																																										SO:0001589	frameshift_variant	0				AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2793dupA	2.37:g.179721061_179721061dupT	ENSP00000395995:p.Asn931fs		H7C0P1|J3KNW6|Q8N8H3	Frame_Shift_Ins	INS	pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.N931fs	ENST00000420890.2	37	c.2793_2792		2																																																																																				CCDC141	-	NULL		0.292	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	CCDC141	HGNC	protein_coding		0	0	0	56	56	81	0.00	0.00	-	NM_173648		179721057	-1	14	16	60	51	tier1	no_errors	ENST00000420890	ensembl	human	known	74_37	frame_shift_ins	18.92	23.88	INS	0.999:1.000	T	14	60
NEU4	129807	genome.wustl.edu	37	2	242755771	242755771	+	Silent	SNP	G	G	T			TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr2:242755771G>T	ENST00000391969.2	+	3	801	c.90G>T	c.(88-90)gtG>gtT	p.V30V	AC114730.3_ENST00000420272.2_RNA|NEU4_ENST00000405370.1_Silent_p.V30V|NEU4_ENST00000325935.6_Silent_p.V43V|NEU4_ENST00000404257.1_Silent_p.V42V|NEU4_ENST00000407683.1_Silent_p.V30V	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	30					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TGCTCCCCGTGCCCCCCGGGC	0.721													ENSG00000204099																																					0													20.0	22.0	22.0					2																	242755771		2203	4299	6502	SO:0001819	synonymous_variant	0			-	BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.90G>T	2.37:g.242755771G>T			A8K056|J3KNJ5|Q96D64	Silent	SNP	superfamily_Sialidases	p.V43	ENST00000391969.2	37	c.129	CCDS54442.1	2	.	.	.	.	.	.	.	.	.	.	G	6.882	0.532145	0.13127	.	.	ENSG00000204099	ENST00000472793	.	.	.	3.77	0.178	0.15058	.	.	.	.	.	T	0.26955	0.0660	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.09952	-1.0651	5	0.07175	T	0.84	-8.0421	4.6184	0.12438	0.0912:0.3523:0.4293:0.1271	.	.	.	.	S	54	.	ENSP00000441629:A54S	A	+	1	0	NEU4	242404444	0.130000	0.22417	0.019000	0.16419	0.599000	0.36880	0.050000	0.14120	0.554000	0.29061	0.448000	0.29417	GCC	-	NEU4	-	superfamily_Sialidases		0.721	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NEU4	HGNC	protein_coding	OTTHUMT00000257270.2	0	0	0	15	15	9	0.00	0.00	G	NM_080741		242755771	+1	8	3	24	2	tier1	no_errors	ENST00000325935	ensembl	human	known	74_37	silent	24.24	60.00	SNP	0.872	T	8	24
DSG2	1829	genome.wustl.edu	37	18	29110997	29110997	+	Silent	SNP	C	C	T	rs369233023		TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr18:29110997C>T	ENST00000261590.8	+	9	1271	c.1062C>T	c.(1060-1062)gtC>gtT	p.V354V		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	354	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GTGTTATTGTCGCTAATAAAG	0.358													ENSG00000046604																																					0								C		0,3672		0,0,1836	117.0	106.0	110.0		1062	5.1	1.0	18		110	1,8181		0,1,4090	no	coding-synonymous	DSG2	NM_001943.3		0,1,5926	TT,TC,CC		0.0122,0.0,0.0084		354/1119	29110997	1,11853	1836	4091	5927	SO:0001819	synonymous_variant	0			-	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.1062C>T	18.37:g.29110997C>T			Q4KKU6	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin	p.V354	ENST00000261590.8	37	c.1062	CCDS42423.1	18																																																																																			-	DSG2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.358	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG2	HGNC	protein_coding	OTTHUMT00000447506.1	0	0	0	77	77	139	0.00	0.00	C	NM_001943		29110997	+1	11	10	111	96	tier1	no_errors	ENST00000261590	ensembl	human	known	74_37	silent	9.02	9.43	SNP	1.000	T	11	111
OR5M10	390167	genome.wustl.edu	37	11	56344977	56344977	+	Missense_Mutation	SNP	G	G	T			TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr11:56344977G>T	ENST00000526812.2	-	1	286	c.221C>A	c.(220-222)tCt>tAt	p.S74Y		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						AACATTGGAAGAATAGCAAAT	0.458													ENSG00000254834																																					0													146.0	139.0	141.0					11																	56344977		1940	4132	6072	SO:0001583	missense	0			-	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.221C>A	11.37:g.56344977G>T	ENSP00000436004:p.Ser74Tyr		B9EIL9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S74Y	ENST00000526812.2	37	c.221	CCDS53630.1	11	.	.	.	.	.	.	.	.	.	.	G	9.044	0.990503	0.18966	.	.	ENSG00000254834	ENST00000526812	T	0.00840	5.63	3.93	3.93	0.45458	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.07279	0.0184	H	0.96777	3.88	0.09310	N	1	D	0.63880	0.993	D	0.63033	0.91	T	0.22487	-1.0215	9	0.87932	D	0	.	5.8017	0.18417	0.1071:0.2004:0.6925:0.0	.	74	Q6IEU7	OR5MA_HUMAN	Y	74	ENSP00000436004:S74Y	ENSP00000436004:S74Y	S	-	2	0	OR5M10	56101553	0.000000	0.05858	0.302000	0.25058	0.124000	0.20399	0.441000	0.21611	2.180000	0.69256	0.632000	0.83419	TCT	-	OR5M10	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.458	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M10	HGNC	protein_coding	OTTHUMT00000391609.1	0	0	2	66	66	105	0.00	1.87	G	NM_001004741		56344977	-1	41	22	89	49	tier1	no_errors	ENST00000526812	ensembl	human	known	74_37	missense	31.06	30.99	SNP	0.000	T	41	89
PIEZO1	9780	genome.wustl.edu	37	16	88800395	88800395	+	Missense_Mutation	SNP	C	C	G	rs144777557|rs144269709|rs202139830	byFrequency	TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr16:88800395C>G	ENST00000301015.9	-	17	2494	c.2248G>C	c.(2248-2250)Gag>Cag	p.E750Q	RP5-1142A6.2_ENST00000567968.1_RNA|RP5-1142A6.2_ENST00000440406.2_RNA	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1	750				Missing (in Ref. 3; BAA13240 and 4; AAI50272). {ECO:0000305}.	cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						tcctcctcctcctgctgctgc	0.667													ENSG00000103335	c|||	215	0.0429313	0.1422	0.0144	5008	,	,		18034	0.002		0.005	False		,,,				2504	0.0102																0													8.0	11.0	10.0					16																	88800395		685	1579	2264	SO:0001583	missense	0			-	D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.2248G>C	16.37:g.88800395C>G	ENSP00000301015:p.Glu750Gln		A6NHT9|A7E2B7|Q0KKZ9	Missense_Mutation	SNP	pfam_Piezo	p.E750Q	ENST00000301015.9	37	c.2248	CCDS54058.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.314|1.314	-0.601304|-0.601304	0.03744|0.03744	.|.	.|.	ENSG00000103335|ENSG00000103335	ENST00000301015|ENST00000451779	T|.	0.42513|.	0.97|.	0.95|0.95	-0.894|-0.894	0.10563|0.10563	.|.	6.054080|.	0.02478|.	U|.	0.088226|.	T|T	0.24928|0.24928	0.0605|0.0605	L|L	0.32530|0.32530	0.975|0.975	0.22851|0.22851	N|N	0.998657|0.998657	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.28808|0.28808	-1.0032|-1.0032	10|5	0.14252|.	T|.	0.57|.	.|.	4.7743|4.7743	0.13171|0.13171	0.0:0.5999:0.4001:0.0|0.0:0.5999:0.4001:0.0	.|.	750|.	Q92508|.	PIEZ1_HUMAN|.	Q|A	750|695	ENSP00000301015:E750Q|.	ENSP00000301015:E750Q|.	E|G	-|-	1|2	0|0	FAM38A|FAM38A	87327896|87327896	0.001000|0.001000	0.12720|0.12720	0.479000|0.479000	0.27329|0.27329	0.108000|0.108000	0.19459|0.19459	0.550000|0.550000	0.23345|0.23345	-0.003000|-0.003000	0.14444|0.14444	0.000000|0.000000	0.15137|0.15137	GAG|GGA	rs202139830	PIEZO1	-	NULL		0.667	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	PIEZO1	HGNC	protein_coding	OTTHUMT00000345699.4	0	0	0	28	28	6	0.00	0.00	C	NM_014745		88800395	-1	4	0	32	4	tier1	no_errors	ENST00000301015	ensembl	human	novel	74_37	missense	11.11	0.00	SNP	0.340	G	4	32
ZMYM2	7750	genome.wustl.edu	37	13	20532979	20532992	+	5'UTR	DEL	CGGGTGAGGCTTAT	CGGGTGAGGCTTAT	-			TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	CGGGTGAGGCTTAT	CGGGTGAGGCTTAT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr13:20532979_20532992delCGGGTGAGGCTTAT	ENST00000382871.2	+	0	57_59				ZMYM2_ENST00000382881.3_5'UTR|ZMYM2_ENST00000382869.3_5'UTR|ZMYM2_ENST00000382874.2_Intron			Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CAGCCAGAACCGGGTGAGGCTTATCCCCGCTGTC	0.715													ENSG00000121741																																					0																																										SO:0001623	5_prime_UTR_variant	0				AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382871.2:c.-127CGGGTGAGGCTTAT>-	13.37:g.20532979_20532992delCGGGTGAGGCTTAT			A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Splice_Site	DEL	-	e1-1	ENST00000382871.2	37	c.1+4_17	CCDS45016.1	13																																																																																				ZMYM2	-	-		0.715	ZMYM2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZMYM2	HGNC	protein_coding	OTTHUMT00000044053.2	0	0	0	6	6	6	0.00	0.00	CGGGTGAGGCTTAT	NM_003453		20532992	+1	1	1	2	2	tier1	no_errors	ENST00000382869	ensembl	human	known	74_37	splice_site_del	33.33	33.33	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:0.966:0.904:0.881:0.710:0.606:0.788	-	1	2
BCR	613	genome.wustl.edu	37	22	23658274	23658275	+	3'UTR	INS	-	-	TGC	rs199982774|rs202178919		TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr22:23658274_23658275insTGC	ENST00000305877.8	+	0	5132_5133				BCR_ENST00000436990.2_3'UTR	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region						actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	CATTCTTGGCTTTCTTTTTCTT	0.47			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								ENSG00000186716																												Dom	yes		22	22q11.21	613	breakpoint cluster region		L	0																																										SO:0001624	3_prime_UTR_variant	0					CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.*566->TGC	22.37:g.23658274_23658275insTGC			P78501|Q12842|Q4LE80|Q6NZI3	R	INS	-	NULL	ENST00000305877.8	37	NULL	CCDS13806.1	22																																																																																				BCR	-	-		0.470	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCR	HGNC	protein_coding	OTTHUMT00000075819.1	0	0	0	45	45	0	0.00	0.00	-	NM_004327		23658275	+1	7	0	57	0	tier1	no_errors	ENST00000436990	ensembl	human	known	74_37	rna	10.94	0.00	INS	0.000:0.000	TGC	7	57
GALNT6	11226	genome.wustl.edu	37	12	51785413	51785414	+	5'Flank	INS	-	-	A			TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr12:51785413_51785414insA	ENST00000356317.3	-	0	0				GALNT6_ENST00000603203.1_5'UTR|SLC4A8_ENST00000535225.2_Intron	NM_007210.3	NP_009141.2	Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCCGCAGCCGCGCCGCGGGGTG	0.772													ENSG00000139629																																					0																																										SO:0001631	upstream_gene_variant	0				Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4			12.37:g.51785413_51785414insA	Exception_encountered		Q8IYH4|Q9H6G2|Q9UIV5	R	INS	-	NULL	ENST00000356317.3	37	NULL	CCDS8813.1	12																																																																																				GALNT6	-	-		0.772	GALNT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT6	HGNC	protein_coding	OTTHUMT00000469736.1	0	0	0	20	20	2	0.00	0.00	-	NM_007210		51785414	-1	4	0	15	1	tier1	no_errors	ENST00000603203	ensembl	human	known	74_37	rna	21.05	0.00	INS	0.001:0.005	A	4	15
POTEM	641455	genome.wustl.edu	37	14	20010278	20010278	+	Intron	SNP	T	T	G	rs201575309		TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr14:20010278T>G	ENST00000551509.1	-	5	969				RNU6-1268P_ENST00000391214.1_RNA|RP11-244H18.1_ENST00000547584.1_lincRNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M											endometrium(4)|kidney(1)|lung(4)	9						TAAAGTTATTTTAAAAGCTAA	0.353													ENSG00000258276																																					0													3.0	3.0	3.0					14																	20010278		353	687	1040	SO:0001627	intron_variant	0			-		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.918-38A>C	14.37:g.20010278T>G				R	SNP	-	NULL	ENST00000551509.1	37	NULL	CCDS45076.1	14																																																																																			rs201575309	RP11-244H18.1	-	-		0.353	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LOC100508046	Clone_based_vega_gene	protein_coding	OTTHUMT00000409490.3	0	0	0	18	18	3	0.00	0.00	T	NM_001145442		20010278	+1	6	0	27	6	tier1	no_errors	ENST00000547584	ensembl	human	known	74_37	rna	18.18	0.00	SNP	0.002	G	6	27
PPM1B	5495	genome.wustl.edu	37	2	44396279	44396280	+	5'UTR	INS	-	-	CGGAGGCGG	rs75626638|rs149901018	byFrequency	TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr2:44396279_44396280insCGGAGGCGG	ENST00000282412.4	+	0	264_265				PPM1B_ENST00000409895.4_5'UTR|RP11-559M23.1_ENST00000609837.1_RNA|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000409432.3_5'UTR|PPM1B_ENST00000378551.2_5'UTR|PPM1B_ENST00000345249.4_5'UTR	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B						cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				gtaaacagccccggaggcggcg	0.748													ENSG00000138032		4049	0.808506	0.7648	0.8285	5008	,	,		8039	0.7202		0.8648	False		,,,				2504	0.8865																0																																										SO:0001623	5_prime_UTR_variant	0				AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9276	protein-coding gene	gene with protein product	"""protein phosphatase 2C, beta isoform"""	603770	"""protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"""			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.-148->CGGAGGCGG	2.37:g.44396280_44396288dupCGGAGGCGG			Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	R	INS	-	NULL	ENST00000282412.4	37	NULL	CCDS1817.1	2																																																																																				PPM1B	-	-		0.748	PPM1B-001	KNOWN	basic|CCDS	protein_coding	PPM1B	HGNC	protein_coding	OTTHUMT00000250672.1	0	0	0	0	0	0	0.00	0.00	-	NM_002706		44396280	+1	1	1	0	0	tier1	no_errors	ENST00000378540	ensembl	human	known	74_37	rna	100.00	100.00	INS	1.000:0.999	CGGAGGCGG	1	0
SENP3	26168	genome.wustl.edu	37	17	7475184	7475184	+	3'UTR	SNP	T	T	A			TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr17:7475184T>A	ENST00000429205.2	+	0	2157				EIF4A1_ENST00000577269.1_5'Flank|EIF4A1_ENST00000293831.8_5'Flank|EIF4A1_ENST00000380512.5_5'Flank|SNORA48_ENST00000386847.1_RNA|EIF4A1_ENST00000582746.1_5'Flank|SENP3_ENST00000321337.7_3'UTR|SENP3-EIF4A1_ENST00000579777.1_RNA|SENP3_ENST00000578868.1_3'UTR			Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3							cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				tatatatatatatatatatat	0.303													ENSG00000161956																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AK000923	CCDS73958.1	17p13	2012-05-02	2005-08-17			ENSG00000161956			17862	protein-coding gene	gene with protein product		612844	"""SUMO1/sentrin/SMT3 specific protease 3"""			10806345, 11230166	Standard	NM_015670		Approved	DKFZP586K0919, SSP3, DKFZp762A152, SMT3IP1, Ulp1	uc002ghm.3	Q9H4L4		ENST00000429205.2:c.*383T>A	17.37:g.7475184T>A			Q66K15|Q86VS7|Q96PS4|Q9Y3W9	R	SNP	-	NULL	ENST00000429205.2	37	NULL		17																																																																																			-	SENP3	-	-		0.303	SENP3-202	KNOWN	basic|appris_candidate_longest	protein_coding	SENP3	HGNC	protein_coding		0	0	0	21	21	1	0.00	0.00	T	NM_015670		7475184	+1	8	0	31	1	tier1	no_errors	ENST00000578813	ensembl	human	known	74_37	rna	20.00	0.00	SNP	0.976	A	8	31
SPEG	10290	genome.wustl.edu	37	2	220330668	220330669	+	Intron	INS	-	-	GT	rs554914793		TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr2:220330668_220330669insGT	ENST00000312358.7	+	10	3013				SPEG_ENST00000396686.1_Intron|SPEG_ENST00000485813.1_Intron|SPEG_ENST00000396695.2_Intron|SPEG_ENST00000396689.2_Intron|SPEG_ENST00000396698.1_Intron|SPEG_ENST00000396688.1_Intron	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus						cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		tgcacgtgtgcgtgcatgtgtg	0.589													ENSG00000072195																																					0																																										SO:0001627	intron_variant	0				BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.2882-1227->GT	2.37:g.220330669_220330670dupGT			A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	R	INS	-	NULL	ENST00000312358.7	37	NULL	CCDS42824.1	2																																																																																				SPEG	-	-		0.589	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2	0	0	0	20	20	0	0.00	0.00	-	NM_005876		220330669	+1	4	0	18	0	tier1	no_errors	ENST00000462545	ensembl	human	known	74_37	rna	18.18	0.00	INS	0.000:0.003	GT	4	18
SIT1	27240	genome.wustl.edu	37	9	35649809	35649809	+	3'UTR	SNP	G	G	A			TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr9:35649809G>A	ENST00000259608.3	-	0	713				RP11-331F9.4_ENST00000428948.1_RNA|SIT1_ENST00000474403.1_5'UTR	NM_014450.2	NP_055265.1	Q9Y3P8	SIT1_HUMAN	signaling threshold regulating transmembrane adaptor 1						immune system process (GO:0002376)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	kinase binding (GO:0019900)|SH2 domain binding (GO:0042169)			endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	9			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CGGGGGGCTGGGGCAGTGCAC	0.657													ENSG00000137078																																					0													4.0	5.0	5.0					9																	35649809		2068	4060	6128	SO:0001624	3_prime_UTR_variant	0			-		CCDS6582.1	9p13-p12	2008-02-05	2005-04-26		ENSG00000137078	ENSG00000137078			17710	protein-coding gene	gene with protein product	"""SHP2 interacting transmembrane adaptor"""	604964	"""suppression inducing transmembrane adaptor 1"""			11491537, 10209036	Standard	NM_014450		Approved	SIT	uc003zxe.1	Q9Y3P8	OTTHUMG00000019867	ENST00000259608.3:c.*36C>T	9.37:g.35649809G>A			B2RBP9	R	SNP	-	NULL	ENST00000259608.3	37	NULL	CCDS6582.1	9																																																																																			-	SIT1	-	-		0.657	SIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIT1	HGNC	protein_coding	OTTHUMT00000052322.1	0	0	0	59	59	50	0.00	0.00	G	NM_014450		35649809	-1	8	2	91	27	tier1	no_errors	ENST00000474403	ensembl	human	known	74_37	rna	8.08	6.90	SNP	0.002	A	8	91
