#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_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_EVS_AA	i_EVS_All	i_EVS_EA	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABCC6	368	genome.wustl.edu	37	16	16276377	16276377	+	Silent	SNP	G	G	A	rs115546382		TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr16:16276377G>A	ENST00000205557.7	-	17	2168	c.2139C>T	c.(2137-2139)ttC>ttT	p.F713F	ABCC6_ENST00000574094.1_Intron	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	713	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	GCTCCTGCCCGAAGCACACAT	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		18615	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													78.0	68.0	71.0					16																	16276377		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.2139C>T	16.37:g.16276377G>A			A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.F713	ENST00000205557.7	37	c.2139	CCDS10568.1	16																																																																																			ABCC6	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc	ENSG00000091262		0.567	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC6	HGNC	protein_coding	OTTHUMT00000252232.2	104	0.00	0	G			16276377	16276377	-1	no_errors	ENST00000205557	ensembl	human	known	69_37n	silent	93	36.30	53	SNP	1.000	A
ACTL7B	10880	genome.wustl.edu	37	9	111617204	111617205	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr9:111617204_111617205insC	ENST00000374667.3	-	1	2034_2035	c.1006_1007insG	c.(1006-1008)gccfs	p.A336fs		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	336						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CACGTTGGCGGCCATCTCCTCC	0.693																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.1007dupG	9.37:g.111617206_111617206dupC	ENSP00000363799:p.Ala336fs		B2R9Q2|Q5JSV1	Frame_Shift_Ins	INS	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.A336fs	ENST00000374667.3	37	c.1007_1006	CCDS6771.1	9																																																																																			ACTL7B	-	pfam_Actin-like,smart_Actin-like	ENSG00000148156		0.693	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL7B	HGNC	protein_coding	OTTHUMT00000053571.1	17	0.00	0	-	NM_006686		111617204	111617205	-1	no_errors	ENST00000374667	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.906:0.990	C
ADCY9	115	genome.wustl.edu	37	16	4033256	4033257	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr16:4033256_4033257insT	ENST00000294016.3	-	7	3033_3034	c.2495_2496insA	c.(2494-2496)gtgfs	p.V832fs		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	832					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CGAGGGACAGCACCTCCAGCAG	0.668											OREG0023573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2495_2496insA	16.37:g.4033256_4033257insT	ENSP00000294016:p.Val832fs	615	A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Frame_Shift_Ins	INS	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L833fs	ENST00000294016.3	37	c.2496_2495	CCDS32382.1	16																																																																																			ADCY9	-	NULL	ENSG00000162104		0.668	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	33	0.00	0	-			4033256	4033257	-1	no_errors	ENST00000294016	ensembl	human	known	69_37n	frame_shift_ins	20	20.00	5	INS	1.000:0.998	T
ADSL	158	genome.wustl.edu	37	22	40742592	40742593	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr22:40742592_40742593insG	ENST00000216194.7	+	1	86_87	c.30_31insG	c.(31-33)gacfs	p.D11fs	ADSL_ENST00000454266.2_Frame_Shift_Ins_p.D11fs|ADSL_ENST00000342312.6_Frame_Shift_Ins_p.D11fs	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	11					'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)	p.P10P(2)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						ATGGTTCGCCCGACAGCTACCG	0.639																																					Colon(4;65 130 1097 1516)	dbGAP											2	Substitution - coding silent(2)	kidney(2)																																								-	-	-	SO:0001589	frameshift_variant	0			X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.31dupG	22.37:g.40742593_40742593dupG	ENSP00000216194:p.Asp11fs		B0QY76|O75495|Q5TI34	Frame_Shift_Ins	INS	pfam_Lyase1_N,pfam_AdenyloSucc_lyase_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase,prints_D_crystallin,tigrfam_Pur_lyase	p.D10fs	ENST00000216194.7	37	c.30_31	CCDS14001.1	22																																																																																			ADSL	-	NULL	ENSG00000239900		0.639	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADSL	HGNC	protein_coding	OTTHUMT00000321386.1	30	0.00	0	-	NM_000026		40742592	40742593	+1	no_errors	ENST00000454266	ensembl	human	known	69_37n	frame_shift_ins	31	42.59	23	INS	0.003:0.842	G
AGK	55750	genome.wustl.edu	37	7	141311049	141311049	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr7:141311049G>A	ENST00000355413.4	+	6	612	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	AGK_ENST00000473247.1_Missense_Mutation_p.V90M|AGK_ENST00000535825.1_Missense_Mutation_p.V115M	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	118	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					AAACACGGATGTGATCATTGT	0.418																																						dbGAP											0													137.0	130.0	132.0					7																	141311049		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"""multiple substrate lipid kinase"""	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.352G>A	7.37:g.141311049G>A	ENSP00000347581:p.Val118Met		Q75KN1|Q96GC3|Q9NP48	Missense_Mutation	SNP	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	p.V118M	ENST00000355413.4	37	c.352	CCDS5865.1	7	.	.	.	.	.	.	.	.	.	.	G	11.97	1.799044	0.31777	.	.	ENSG00000006530	ENST00000355413;ENST00000473247;ENST00000535825	T;T;T	0.46063	2.45;2.45;0.88	5.63	1.95	0.26073	ATP-NAD kinase, PpnK-type, alpha/beta (1);Diacylglycerol kinase, catalytic domain (3);	1.058900	0.07239	N	0.864018	T	0.26159	0.0638	N	0.17800	0.525	0.33004	D	0.526667	B	0.06786	0.001	B	0.12837	0.008	T	0.37430	-0.9706	10	0.35671	T	0.21	.	3.6955	0.08362	0.4446:0.1901:0.3653:0.0	.	118	Q53H12	AGK_HUMAN	M	118;90;115	ENSP00000347581:V118M;ENSP00000420776:V90M;ENSP00000444349:V115M	ENSP00000347581:V118M	V	+	1	0	AGK	140957518	0.225000	0.23685	1.000000	0.80357	0.995000	0.86356	0.303000	0.19210	0.654000	0.30846	0.655000	0.94253	GTG	AGK	-	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	ENSG00000006530		0.418	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGK	HGNC	protein_coding	OTTHUMT00000348969.1	467	0.00	0	G	NM_018238		141311049	141311049	+1	no_errors	ENST00000355413	ensembl	human	known	69_37n	missense	342	11.79	46	SNP	1.000	A
AKAP13	11214	genome.wustl.edu	37	15	86122519	86122519	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr15:86122519G>A	ENST00000394518.2	+	7	1315	c.1220G>A	c.(1219-1221)tGt>tAt	p.C407Y	RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Missense_Mutation_p.C407Y	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	407					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TTGCCTGATTGTGGAGTAAAG	0.502																																					Melanoma(94;603 1453 3280 32295 32951)	dbGAP											0													78.0	85.0	82.0					15																	86122519		2202	4299	6501	-	-	-	SO:0001583	missense	0			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.1220G>A	15.37:g.86122519G>A	ENSP00000378026:p.Cys407Tyr		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.C407Y	ENST00000394518.2	37	c.1220	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528682	0.27387	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.11604	2.79;2.76	4.88	0.673	0.17941	.	.	.	.	.	T	0.05640	0.0148	N	0.17082	0.46	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.38824	-0.9643	9	0.52906	T	0.07	.	1.806	0.03081	0.1807:0.1603:0.4937:0.1653	.	407;407	Q12802;Q12802-2	AKP13_HUMAN;.	Y	407;407;406;406	ENSP00000354718:C407Y;ENSP00000378026:C407Y	ENSP00000354718:C407Y	C	+	2	0	AKAP13	83923523	0.000000	0.05858	0.000000	0.03702	0.409000	0.31022	-0.251000	0.08818	0.039000	0.15632	-0.137000	0.14449	TGT	AKAP13	-	NULL	ENSG00000170776		0.502	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	98	0.00	0	G	NM_007200		86122519	86122519	+1	no_errors	ENST00000361243	ensembl	human	known	69_37n	missense	51	21.54	14	SNP	0.000	A
AKAP4	8852	genome.wustl.edu	37	X	49957911	49957911	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chrX:49957911C>A	ENST00000376056.2	-	5	1576	c.1426G>T	c.(1426-1428)Gac>Tac	p.D476Y	AKAP4_ENST00000376064.3_Missense_Mutation_p.D476Y|AKAP4_ENST00000358526.2_Missense_Mutation_p.D485Y|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Intron					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TTGCATGGGTCTGATTTCATT	0.448																																						dbGAP											0													159.0	144.0	149.0					X																	49957911		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1426G>T	X.37:g.49957911C>A	ENSP00000365224:p.Asp476Tyr			Missense_Mutation	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.D485Y	ENST00000376056.2	37	c.1453	CCDS14330.1	X	.	.	.	.	.	.	.	.	.	.	C	8.585	0.883248	0.17467	.	.	ENSG00000147081	ENST00000376056;ENST00000358526;ENST00000376064	T;T;T	0.07444	3.19;3.19;3.19	4.82	4.82	0.62117	A-kinase anchor 110kDa, C-terminal (1);	0.521608	0.17281	N	0.179995	T	0.16428	0.0395	L	0.44542	1.39	0.50313	D	0.999869	P	0.52842	0.956	P	0.57009	0.811	T	0.01360	-1.1375	9	.	.	.	-5.9974	12.4573	0.55712	0.0:1.0:0.0:0.0	.	485	Q5JQC9	AKAP4_HUMAN	Y	476;485;476	ENSP00000365224:D476Y;ENSP00000351327:D485Y;ENSP00000365232:D476Y	.	D	-	1	0	AKAP4	49844651	0.989000	0.36119	0.054000	0.19295	0.211000	0.24417	3.500000	0.53318	1.990000	0.58119	0.458000	0.33432	GAC	AKAP4	-	pfam_AKAP_110_C,smart_AKAP_110	ENSG00000147081		0.448	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP4	HGNC	protein_coding	OTTHUMT00000056552.1	195	0.00	0	C	NM_003886		49957911	49957911	-1	no_errors	ENST00000358526	ensembl	human	known	69_37n	missense	104	33.76	53	SNP	0.049	A
ALDH2	217	genome.wustl.edu	37	12	112229881	112229882	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr12:112229881_112229882insG	ENST00000261733.2	+	8	873_874	c.812_813insG	c.(811-816)caggttfs	p.V272fs	ALDH2_ENST00000416293.3_Frame_Shift_Ins_p.V225fs	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	272					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	CGCGTAATCCAGGTTGCTGCTG	0.55			T	HMGA2	leiomyoma																																	dbGAP		Dom	yes		12	12q24.2	217	aldehyde dehydrogenase 2 family (mitochondrial)		M	0																																										-	-	-	SO:0001589	frameshift_variant	0			M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"""Aldehyde dehydrogenases"""	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.814dupG	12.37:g.112229883_112229883dupG	ENSP00000261733:p.Val272fs		B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Frame_Shift_Ins	INS	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.V272fs	ENST00000261733.2	37	c.812_813	CCDS9155.1	12																																																																																			ALDH2	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000111275		0.550	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH2	HGNC	protein_coding	OTTHUMT00000405008.1	51	0.00	0	-	NM_000690		112229881	112229882	+1	no_errors	ENST00000261733	ensembl	human	known	69_37n	frame_shift_ins	16	11.11	2	INS	1.000:0.988	G
ALKBH7	84266	genome.wustl.edu	37	19	6373002	6373002	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr19:6373002delC	ENST00000245812.3	+	1	559	c.171delC	c.(169-171)cgcfs	p.R60fs	ALKBH7_ENST00000599849.1_5'Flank|ALKBH7_ENST00000596657.1_5'Flank	NM_032306.3	NP_115682.1	Q9BT30	ALKB7_HUMAN	alkB, alkylation repair homolog 7 (E. coli)	60					cellular response to DNA damage stimulus (GO:0006974)|fatty acid metabolic process (GO:0006631)|regulation of lipid storage (GO:0010883)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)	mitochondrial matrix (GO:0005759)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CCGAGCTGCGCCGCCGCCGCT	0.746																																						dbGAP											0													5.0	7.0	6.0					19																	6373002		2046	4058	6104	-	-	-	SO:0001589	frameshift_variant	0			AY427650	CCDS12163.1	19p13.3	2008-02-05	2006-02-09	2006-02-09		ENSG00000125652		"""Alkylation repair homologs"""	21306	protein-coding gene	gene with protein product		613305	"""spermatogenesis associated 11"""	SPATA11		12477932	Standard	NM_032306		Approved	MGC10974	uc002meo.2	Q9BT30		ENST00000245812.3:c.171delC	19.37:g.6373002delC	ENSP00000245812:p.Arg60fs		B2R4U9|Q53FF3	Frame_Shift_Del	DEL	NULL	p.R58fs	ENST00000245812.3	37	c.171	CCDS12163.1	19																																																																																			ALKBH7	-	NULL	ENSG00000125652		0.746	ALKBH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALKBH7	HGNC	protein_coding	OTTHUMT00000453036.1	18	0.00	0	C	NM_032306		6373002	6373002	+1	no_errors	ENST00000245812	ensembl	human	known	69_37n	frame_shift_del	5	66.67	10	DEL	0.999	-
ALOX5	240	genome.wustl.edu	37	10	45941043	45941044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr10:45941043_45941044insC	ENST00000374391.2	+	14	1986_1987	c.1933_1934insC	c.(1933-1935)attfs	p.I645fs	RP11-67C2.2_ENST00000435635.1_RNA|ALOX5_ENST00000542434.1_Frame_Shift_Ins_p.I588fs	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	645	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	CCTCGAGGCCATTGTCAGCGTG	0.545																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	Exception_encountered	10.37:g.45941043_45941044insC	ENSP00000363512:p.Ile645fs		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Frame_Shift_Ins	INS	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C,pfscan_LipOase_LH2	p.I645fs	ENST00000374391.2	37	c.1933_1934	CCDS7212.1	10																																																																																			ALOX5	-	pfam_LipOase_C,superfamily_LipOase_C	ENSG00000012779		0.545	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX5	HGNC	protein_coding	OTTHUMT00000047780.1	57	0.00	0	-			45941043	45941044	+1	no_errors	ENST00000374391	ensembl	human	known	69_37n	frame_shift_ins	31	31.11	14	INS	0.999:1.000	C
AQP4	361	genome.wustl.edu	37	18	24436200	24436200	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr18:24436200G>A	ENST00000383168.4	-	5	1075	c.947C>T	c.(946-948)tCt>tTt	p.S316F	AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000581374.1_Missense_Mutation_p.S294F|AQP4_ENST00000583022.1_5'Flank|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000440832.3_Missense_Mutation_p.S294F	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	316					carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					TACCTCTCCAGATTGGTCTTT	0.468																																						dbGAP											0													290.0	258.0	269.0					18																	24436200		2203	4300	6503	-	-	-	SO:0001583	missense	0			U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"""Ion channels / Aquaporins"""	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.947C>T	18.37:g.24436200G>A	ENSP00000372654:p.Ser316Phe		P78564	Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_Aquaporin	p.S316F	ENST00000383168.4	37	c.947	CCDS11889.1	18	.	.	.	.	.	.	.	.	.	.	G	16.94	3.259548	0.59321	.	.	ENSG00000171885	ENST00000383168;ENST00000440832;ENST00000383170	D	0.86694	-2.16	5.84	5.84	0.93424	.	0.488621	0.24980	N	0.034078	D	0.82857	0.5128	L	0.27053	0.805	0.58432	D	0.999996	B	0.31009	0.303	B	0.30855	0.121	T	0.81382	-0.0958	10	0.87932	D	0	.	20.1535	0.98095	0.0:0.0:1.0:0.0	.	316	P55087	AQP4_HUMAN	F	316;296;212	ENSP00000372654:S316F	ENSP00000372654:S316F	S	-	2	0	AQP4	22690198	1.000000	0.71417	0.256000	0.24389	0.611000	0.37282	9.042000	0.93793	2.764000	0.94973	0.650000	0.86243	TCT	AQP4	-	NULL	ENSG00000171885		0.468	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP4	HGNC	protein_coding	OTTHUMT00000254914.2	191	0.00	0	G	NM_001650, NM_004028		24436200	24436200	-1	no_errors	ENST00000383168	ensembl	human	known	69_37n	missense	85	38.85	54	SNP	0.957	A
ARHGAP4	393	genome.wustl.edu	37	X	153173249	153173250	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chrX:153173249_153173250insG	ENST00000350060.5	-	22	2815_2816	c.2774_2775insC	c.(2773-2775)cctfs	p.P925fs	ARHGAP4_ENST00000467421.1_5'Flank|ARHGAP4_ENST00000370016.1_Frame_Shift_Ins_p.P904fs|ARHGAP4_ENST00000537206.1_Frame_Shift_Ins_p.P902fs|ARHGAP4_ENST00000370028.3_Frame_Shift_Ins_p.P965fs|ARHGAP4_ENST00000393721.1_Frame_Shift_Ins_p.P747fs	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	925					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGGGGCCCCAGGGCCCCGGGA	0.713																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.2775dupC	X.37:g.153173252_153173252dupG	ENSP00000203786:p.Pro925fs		Q14144|Q86UY3	Frame_Shift_Ins	INS	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.G926fs	ENST00000350060.5	37	c.2775_2774	CCDS14736.1	X																																																																																			ARHGAP4	-	NULL	ENSG00000089820		0.713	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGAP4	HGNC	protein_coding	OTTHUMT00000061119.1	43	0.00	0	-	NM_001666		153173249	153173250	-1	no_errors	ENST00000350060	ensembl	human	known	69_37n	frame_shift_ins	26	18.75	6	INS	0.000:0.000	G
ARID1B	57492	genome.wustl.edu	37	6	157099194	157099195	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr6:157099194_157099195delCA	ENST00000350026.5	+	1	132_133	c.131_132delCA	c.(130-132)gcafs	p.A47fs	ARID1B_ENST00000275248.4_5'UTR|RP11-230C9.2_ENST00000603191.1_lincRNA|RP11-230C9.3_ENST00000604792.1_RNA|ARID1B_ENST00000367148.1_Frame_Shift_Del_p.A47fs|MIR4466_ENST00000606121.1_RNA|ARID1B_ENST00000346085.5_Frame_Shift_Del_p.A47fs	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	47	Ala-rich.|Ser-rich.		Missing. {ECO:0000269|PubMed:22405089}.		chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		tccGCGGCGGCAGCGGCGGCAT	0.728																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.131_132delCA	6.37:g.157099194_157099195delCA	ENSP00000055163:p.Ala47fs		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Frame_Shift_Del	DEL	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.A44fs	ENST00000350026.5	37	c.131_132	CCDS5251.2	6																																																																																			ARID1B	-	NULL	ENSG00000049618		0.728	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1	24	0.00	0	CA	NM_020732		157099194	157099195	+1	no_errors	ENST00000367148	ensembl	human	known	69_37n	frame_shift_del	6	25.00	2	DEL	0.995:0.994	-
ASXL2	55252	genome.wustl.edu	37	2	25967150	25967150	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr2:25967150C>G	ENST00000435504.4	-	13	2349	c.2056G>C	c.(2056-2058)Gtt>Ctt	p.V686L	ASXL2_ENST00000336112.4_Missense_Mutation_p.V658L|ASXL2_ENST00000404843.1_Missense_Mutation_p.V426L|ASXL2_ENST00000272341.4_Missense_Mutation_p.V426L			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	686					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCCTCCAACTGAGGCGGCT	0.622																																						dbGAP											0													54.0	57.0	56.0					2																	25967150		1880	4105	5985	-	-	-	SO:0001583	missense	0					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.2056G>C	2.37:g.25967150C>G	ENSP00000391447:p.Val686Leu		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.V686L	ENST00000435504.4	37	c.2056		2	.	.	.	.	.	.	.	.	.	.	C	15.78	2.932977	0.52866	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.94	5.07	0.68467	.	0.279226	0.25887	N	0.027652	T	0.47801	0.1465	M	0.70275	2.135	0.33590	D	0.601039	B;B	0.33940	0.433;0.051	B;B	0.30029	0.11;0.03	T	0.59952	-0.7357	10	0.28530	T	0.3	-8.4944	9.6404	0.39835	0.1411:0.7847:0.0:0.0742	.	426;686	Q76L83-2;Q76L83	.;ASXL2_HUMAN	L	686;658;426;426	ENSP00000391447:V686L;ENSP00000337250:V658L;ENSP00000383920:V426L;ENSP00000272341:V426L	ENSP00000272341:V426L	V	-	1	0	ASXL2	25820654	0.967000	0.33354	0.970000	0.41538	0.970000	0.65996	2.556000	0.45862	1.524000	0.49035	0.563000	0.77884	GTT	ASXL2	-	NULL	ENSG00000143970		0.622	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	HGNC	protein_coding	OTTHUMT00000325593.3	64	0.00	0	C	NM_018263		25967150	25967150	-1	no_errors	ENST00000435504	ensembl	human	known	69_37n	missense	37	13.95	6	SNP	0.977	G
ATP1A4	480	genome.wustl.edu	37	1	160141540	160141540	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr1:160141540G>T	ENST00000368081.4	+	12	2318	c.1847G>T	c.(1846-1848)gGa>gTa	p.G616V	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	616					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGCAGTGCAGGAATTAAGGTA	0.498																																						dbGAP											0													86.0	89.0	88.0					1																	160141540		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.1847G>T	1.37:g.160141540G>T	ENSP00000357060:p.Gly616Val		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.G616V	ENST00000368081.4	37	c.1847	CCDS1197.1	1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564224	0.65651	.	.	ENSG00000132681	ENST00000368081	D	0.98249	-4.82	4.19	4.19	0.49359	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.99447	0.9804	H	0.99225	4.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97959	1.0336	10	0.87932	D	0	.	14.4103	0.67111	0.0:0.0:1.0:0.0	.	616	Q13733	AT1A4_HUMAN	V	616	ENSP00000357060:G616V	ENSP00000357060:G616V	G	+	2	0	ATP1A4	158408164	1.000000	0.71417	0.982000	0.44146	0.429000	0.31625	9.636000	0.98440	2.341000	0.79615	0.655000	0.94253	GGA	ATP1A4	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk	ENSG00000132681		0.498	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A4	HGNC	protein_coding	OTTHUMT00000077415.1	95	0.00	0	G	NM_144699		160141540	160141540	+1	no_errors	ENST00000368081	ensembl	human	known	69_37n	missense	83	11.70	11	SNP	1.000	T
ATP2B1	490	genome.wustl.edu	37	12	89996873	89996873	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr12:89996873T>C	ENST00000428670.3	-	18	3463	c.3007A>G	c.(3007-3009)Atc>Gtc	p.I1003V	ATP2B1_ENST00000348959.3_Missense_Mutation_p.I1003V|ATP2B1_ENST00000393164.2_Missense_Mutation_p.I746V|ATP2B1_ENST00000261173.2_Missense_Mutation_p.I1003V|ATP2B1_ENST00000359142.3_Missense_Mutation_p.I1003V			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1003					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TTGTTAAAGATTCCTTCGAAT	0.343																																						dbGAP											0													110.0	103.0	105.0					12																	89996873		2203	4300	6503	-	-	-	SO:0001583	missense	0			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.3007A>G	12.37:g.89996873T>C	ENSP00000392043:p.Ile1003Val		Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.I1003V	ENST00000428670.3	37	c.3007	CCDS9035.1	12	.	.	.	.	.	.	.	.	.	.	T	16.30	3.085286	0.55861	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.37	5.03	5.03	0.67393	.	0.047757	0.85682	D	0.000000	D	0.85057	0.5610	L	0.35542	1.07	0.58432	D	0.999998	B;B;B	0.30439	0.009;0.279;0.086	B;B;B	0.34779	0.004;0.189;0.048	D	0.84247	0.0475	10	0.49607	T	0.09	-27.9263	15.0416	0.71796	0.0:0.0:0.0:1.0	.	1003;1003;1003	P20020-3;P20020-2;P20020-6	.;.;.	V	1003;1003;1003;1003;746	ENSP00000261173:I1003V;ENSP00000343599:I1003V;ENSP00000352054:I1003V;ENSP00000392043:I1003V;ENSP00000376869:I746V	ENSP00000261173:I1003V	I	-	1	0	ATP2B1	88521004	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.111000	0.64628	2.009000	0.58944	0.460000	0.39030	ATC	ATP2B1	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMCA	ENSG00000070961		0.343	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP2B1	HGNC	protein_coding	OTTHUMT00000406653.1	240	0.00	0	T	NM_001682		89996873	89996873	-1	no_errors	ENST00000261173	ensembl	human	known	69_37n	missense	101	41.71	73	SNP	1.000	C
ATP5C1	509	genome.wustl.edu	37	10	7839114	7839114	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr10:7839114G>T	ENST00000356708.7	+	3	275	c.196G>T	c.(196-198)Gct>Tct	p.A66S	ATP5C1_ENST00000541227.1_Missense_Mutation_p.A19S|ATP5C1_ENST00000335698.4_Missense_Mutation_p.A66S|ATP5C1_ENST00000493053.1_3'UTR	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	66					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						GCTGAAACCAGCTCGAATATA	0.398																																					Melanoma(143;1012 1820 16249 30920 33158)	dbGAP											0													66.0	65.0	65.0					10																	7839114		2203	4300	6503	-	-	-	SO:0001583	missense	0			D16561	CCDS7081.1, CCDS31142.1	10p14	2012-10-12			ENSG00000165629	ENSG00000165629		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	833	protein-coding gene	gene with protein product		108729		ATP5CL1, ATP5C		8168843, 8227057	Standard	NM_005174		Approved		uc001iju.3	P36542	OTTHUMG00000017639	ENST00000356708.7:c.196G>T	10.37:g.7839114G>T	ENSP00000349142:p.Ala66Ser		A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Missense_Mutation	SNP	pfam_ATPase_F1-cplx_gsu,superfamily_ATPase_F1_gsu_dom,prints_ATPase_F1-cplx_gsu,tigrfam_ATPase_F1-cplx_gsu	p.A66S	ENST00000356708.7	37	c.196	CCDS31142.1	10	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031285	0.75504	.	.	ENSG00000165629	ENST00000356708;ENST00000335698;ENST00000541227	.	.	.	5.17	5.17	0.71159	ATPase, F1 complex, gamma subunit domain (1);	0.000000	0.85682	D	0.000000	T	0.72020	0.3409	L	0.49350	1.555	0.80722	D	1	D	0.54397	0.966	P	0.59761	0.863	T	0.69446	-0.5143	9	0.33940	T	0.23	-15.1839	18.6652	0.91488	0.0:0.0:1.0:0.0	.	66	P36542	ATPG_HUMAN	S	66;66;19	.	ENSP00000338568:A66S	A	+	1	0	ATP5C1	7879120	1.000000	0.71417	0.836000	0.33094	0.553000	0.35397	9.622000	0.98378	2.433000	0.82419	0.655000	0.94253	GCT	ATP5C1	-	pfam_ATPase_F1-cplx_gsu,superfamily_ATPase_F1_gsu_dom,tigrfam_ATPase_F1-cplx_gsu	ENSG00000165629		0.398	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP5C1	HGNC	protein_coding	OTTHUMT00000046708.1	135	0.00	0	G	NM_005174		7839114	7839114	+1	no_errors	ENST00000356708	ensembl	human	known	69_37n	missense	67	37.96	41	SNP	1.000	T
C1QTNF3	114899	genome.wustl.edu	37	5	34035771	34035772	+	Frame_Shift_Ins	INS	-	-	G	rs142993560|rs140166139		TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr5:34035771_34035772insG	ENST00000231338.7	-	2	263_264	c.176_177insC	c.(175-177)ccgfs	p.P59fs	C1QTNF3_ENST00000513065.1_5'Flank|C1QTNF3_ENST00000382065.3_Frame_Shift_Ins_p.P132fs|RP11-1084J3.4_ENST00000382079.3_Frame_Shift_Ins_p.P43fs	NM_030945.3	NP_112207.1	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	59	Collagen-like.				cellular triglyceride homeostasis (GO:0035356)|fat cell differentiation (GO:0045444)|negative regulation of gene expression (GO:0010629)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of cytokine secretion (GO:0050715)|protein trimerization (GO:0070206)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					CAGGAGGGCCCGGTGGCCCAGG	0.51																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF329837	CCDS3904.1, CCDS34141.1	5p13	2009-05-20			ENSG00000082196	ENSG00000082196			14326	protein-coding gene	gene with protein product	"""cartonectin"""	612045				18421280	Standard	NM_030945		Approved	CTRP3, Cors, Corcs, 2310005P21Rik, Cors-26	uc003jio.3	Q9BXJ4	OTTHUMG00000090735	ENST00000231338.7:c.177dupC	5.37:g.34035773_34035773dupG	ENSP00000231338:p.Pro59fs		Q0VAN4|Q542Y2|Q6MZN1|Q96KY1	Frame_Shift_Ins	INS	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.P135fs	ENST00000231338.7	37	c.396_395	CCDS3904.1	5																																																																																			C1QTNF3	-	pfam_Collagen	ENSG00000082196		0.510	C1QTNF3-001	KNOWN	basic|CCDS	protein_coding	C1QTNF3	HGNC	protein_coding	OTTHUMT00000207469.1	99	0.00	0	-	NM_030945		34035771	34035772	-1	no_errors	ENST00000382065	ensembl	human	known	69_37n	frame_shift_ins	77	14.44	13	INS	0.014:0.888	G
C1orf101	257044	genome.wustl.edu	37	1	244624705	244624706	+	5'UTR	INS	-	-	G			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr1:244624705_244624706insG	ENST00000366534.4	+	0	28_29				C1orf101_ENST00000366533.4_5'UTR|C1orf101_ENST00000473875.1_Intron|C1orf101_ENST00000366531.3_5'Flank	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101							CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			GTGGCCGAGGCGGTTGGGCGGA	0.738																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.-26->G	1.37:g.244624707_244624707dupG			B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	RNA	INS	-	NULL	ENST00000366534.4	37	NULL	CCDS44340.1	1																																																																																			C1orf101	-	-	ENSG00000179397		0.738	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C1orf101	HGNC	protein_coding	OTTHUMT00000096701.1	34	0.00	0	-	NM_173807		244624705	244624706	+1	no_errors	ENST00000460986	ensembl	human	known	69_37n	rna	21	19.23	5	INS	0.003:0.004	G
CACNA1B	774	genome.wustl.edu	37	9	140943756	140943756	+	Silent	SNP	G	G	A	rs181038379	byFrequency	TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr9:140943756G>A	ENST00000371372.1	+	24	3844	c.3699G>A	c.(3697-3699)gcG>gcA	p.A1233A	CACNA1B_ENST00000371357.1_Silent_p.A1234A|CACNA1B_ENST00000277551.2_Silent_p.A1233A|CACNA1B_ENST00000371363.1_Silent_p.A1233A|CACNA1B_ENST00000371355.4_Silent_p.A1234A|CACNA1B_ENST00000277549.5_Silent_p.A425A	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1233					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCTGGTGGCGTTTGCTTTCT	0.557													G|||	4	0.000798722	0.0	0.0	5008	,	,		20519	0.001		0.0	False		,,,				2504	0.0031					dbGAP											0													137.0	133.0	134.0					9																	140943756		2070	4207	6277	-	-	-	SO:0001819	synonymous_variant	0			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.3699G>A	9.37:g.140943756G>A			B1AQK5	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.A1234	ENST00000371372.1	37	c.3702	CCDS59522.1	9																																																																																			CACNA1B	-	pfam_Ion_trans_dom	ENSG00000148408		0.557	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	322	0.00	0	G	NM_000718		140943756	140943756	+1	no_errors	ENST00000371355	ensembl	human	known	69_37n	silent	254	20.31	66	SNP	0.125	A
CACNA1E	777	genome.wustl.edu	37	1	181693635	181693635	+	Missense_Mutation	SNP	G	G	A	rs12131800	byFrequency	TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr1:181693635G>A	ENST00000367573.2	+	17	2104	c.2104G>A	c.(2104-2106)Gct>Act	p.A702T	CACNA1E_ENST00000358338.5_Missense_Mutation_p.A653T|CACNA1E_ENST00000526775.1_Missense_Mutation_p.A702T|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A702T|CACNA1E_ENST00000367567.4_Missense_Mutation_p.A309T|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A702T|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A653T	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	702					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTTGGCTATCGCTGTGGATAA	0.478																																						dbGAP											0													142.0	133.0	136.0					1																	181693635		1984	4177	6161	-	-	-	SO:0001583	missense	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2104G>A	1.37:g.181693635G>A	ENSP00000356545:p.Ala702Thr		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.A702T	ENST00000367573.2	37	c.2104	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478016	0.63849	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42	4.86	4.86	0.63082	.	0.154889	0.56097	D	0.000021	D	0.98795	0.9594	M	0.92738	3.34	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.99723	1.1010	10	0.72032	D	0.01	.	17.9496	0.89048	0.0:0.0:1.0:0.0	rs12131800;rs12131800	702;702	Q15878-2;Q15878-3	.;.	T	702;702;653;653;309;702;702	ENSP00000356542:A702T;ENSP00000434814:A702T;ENSP00000350183:A653T;ENSP00000351101:A653T;ENSP00000356539:A309T;ENSP00000353222:A702T;ENSP00000356545:A702T	ENSP00000350183:A653T	A	+	1	0	CACNA1E	179960258	1.000000	0.71417	0.991000	0.47740	0.359000	0.29487	9.675000	0.98638	2.390000	0.81377	0.462000	0.41574	GCT	CACNA1E	-	pfam_PKD1_2_channel	ENSG00000198216		0.478	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	184	0.00	0	G	NM_000721		181693635	181693635	+1	no_errors	ENST00000367573	ensembl	human	known	69_37n	missense	69	42.98	52	SNP	1.000	A
CAMKK1	84254	genome.wustl.edu	37	17	3769233	3769233	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr17:3769233delG	ENST00000348335.2	-	15	1562	c.1414delC	c.(1414-1416)cgafs	p.R472fs	CAMKK1_ENST00000381771.2_Frame_Shift_Del_p.R510fs|CAMKK1_ENST00000381769.2_Frame_Shift_Del_p.R499fs|CAMKK1_ENST00000158166.5_Frame_Shift_Del_p.R510fs	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	472					synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		GACATGGATCGCTCTTCCCTC	0.607																																						dbGAP											0													134.0	106.0	116.0					17																	3769233		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.1414delC	17.37:g.3769233delG	ENSP00000323118:p.Arg472fs		Q9BQH3	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R510fs	ENST00000348335.2	37	c.1528	CCDS11038.1	17																																																																																			CAMKK1	-	NULL	ENSG00000004660		0.607	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMKK1	HGNC	protein_coding	OTTHUMT00000207456.1	97	0.00	0	G	NM_032294, NM_172206, NM_172207		3769233	3769233	-1	no_errors	ENST00000381771	ensembl	human	known	69_37n	frame_shift_del	37	55.56	50	DEL	0.976	-
CCDC79	283847	genome.wustl.edu	37	16	66820029	66820029	+	Silent	SNP	T	T	G			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr16:66820029T>G	ENST00000558713.2	-	7	537	c.465A>C	c.(463-465)acA>acC	p.T155T	CCDC79_ENST00000433574.1_Silent_p.T155T|CCDC79_ENST00000432602.1_Silent_p.T155T|CCDC79_ENST00000561333.1_5'UTR|CCDC79_ENST00000433154.1_Silent_p.T155T|CCDC79_ENST00000415744.1_Silent_p.T155T			Q8NA31	TERB1_HUMAN	coiled-coil domain containing 79	155					meiotic telomere clustering (GO:0045141)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|skin(2)	7						TTGAAATAACTGTCCTATTAG	0.294																																						dbGAP											0													85.0	72.0	76.0					16																	66820029		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK093213		16q22.1	2012-10-03			ENSG00000249961	ENSG00000249961			26675	protein-coding gene	gene with protein product							Standard	NM_001136505		Approved	FLJ35894	uc010viv.2	Q8NA31	OTTHUMG00000133562	ENST00000558713.2:c.465A>C	16.37:g.66820029T>G			A0AUW1	Silent	SNP	pfam_SANT/Myb,superfamily_ARM-type_fold,superfamily_Homeodomain-like,superfamily_Cytokine_IL1-like,smart_SANT/Myb	p.T155	ENST00000558713.2	37	c.465		16																																																																																			CCDC79	-	superfamily_ARM-type_fold	ENSG00000249961		0.294	CCDC79-003	KNOWN	basic|appris_principal	protein_coding	CCDC79	HGNC	protein_coding	OTTHUMT00000418864.2	108	0.00	0	T			66820029	66820029	-1	no_errors	ENST00000433154	ensembl	human	known	69_37n	silent	68	17.07	14	SNP	1.000	G
CDC25C	995	genome.wustl.edu	37	5	137621470	137621470	+	Silent	SNP	G	G	A			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr5:137621470G>A	ENST00000323760.6	-	14	1611	c.1333C>T	c.(1333-1335)Ctg>Ttg	p.L445L	CDC25C_ENST00000415130.2_Silent_p.L372L|CDC25C_ENST00000513970.1_Silent_p.L445L|CDC25C_ENST00000514555.1_Silent_p.L415L|CDC25C_ENST00000356505.3_Silent_p.L415L|CDC25C_ENST00000357274.3_Silent_p.L402L|CDC25C_ENST00000348983.3_Silent_p.L372L	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	445					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|WW domain binding (GO:0050699)			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CGACACCTCAGCAACTCAGTC	0.527																																						dbGAP											0													112.0	99.0	103.0					5																	137621470		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M34065	CCDS4202.1, CCDS4203.1	5q31	2013-01-17	2013-01-17		ENSG00000158402	ENSG00000158402		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1727	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 60"""	157680	"""cell division cycle 25C"", ""cell division cycle 25 homolog C (S. cerevisiae)"", ""cell division cycle 25 homolog C (S. pombe)"""	CDC25		1703321	Standard	XM_005272145		Approved	PPP1R60	uc003lcp.1	P30307	OTTHUMG00000129203	ENST00000323760.6:c.1333C>T	5.37:g.137621470G>A			D3DQB8|Q96PL3|Q9H168|Q9H2E8|Q9H2E9|Q9H2F1	Missense_Mutation	SNP	pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase	p.A246V	ENST00000323760.6	37	c.737	CCDS4202.1	5	.	.	.	.	.	.	.	.	.	.	G	8.119	0.780524	0.16120	.	.	ENSG00000158402	ENST00000514017	.	.	.	5.32	2.29	0.28610	.	.	.	.	.	T	0.56277	0.1974	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50389	-0.8834	4	.	.	.	-30.6609	8.3213	0.32130	0.1641:0.1361:0.6999:0.0	.	.	.	.	V	246	.	.	A	-	2	0	CDC25C	137649369	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.145000	0.50623	0.785000	0.33685	0.655000	0.94253	GCT	CDC25C	-	superfamily_Rhodanese-like_dom,prints_MPI_Phosphatase	ENSG00000158402		0.527	CDC25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC25C	HGNC	protein_coding	OTTHUMT00000251280.1	80	0.00	0	G			137621470	137621470	-1	no_start_codon:pseudogene:no_stop_codon	ENST00000514017	ensembl	human	novel	69_37n	missense	98	18.33	22	SNP	0.997	A
CELSR1	9620	genome.wustl.edu	37	22	46806305	46806305	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr22:46806305delG	ENST00000262738.3	-	7	4922	c.4923delC	c.(4921-4923)ggcfs	p.G1641fs		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1641	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTTCCCGGGTGCCATTGTTGG	0.617																																						dbGAP											0													102.0	89.0	94.0					22																	46806305		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4923delC	22.37:g.46806305delG	ENSP00000262738:p.Gly1641fs		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.T1642fs	ENST00000262738.3	37	c.4923	CCDS14076.1	22																																																																																			CELSR1	-	superfamily_ConA-like_lec_gl,pfscan_Laminin_G	ENSG00000075275		0.617	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1	34	0.00	0	G	NM_014246		46806305	46806305	-1	no_errors	ENST00000262738	ensembl	human	known	69_37n	frame_shift_del	16	30.43	7	DEL	1.000	-
CGN	57530	genome.wustl.edu	37	1	151502028	151502029	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr1:151502028_151502029insT	ENST00000271636.7	+	11	2232_2233	c.2099_2100insT	c.(2098-2103)gcttccfs	p.S701fs	SNORA44_ENST00000517031.1_RNA	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	695	Glu-rich.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGTGAAGAGGCTTCCAAGGCAA	0.599																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.2101dupT	1.37:g.151502030_151502030dupT	ENSP00000271636:p.Ser701fs		A6H8L3|A7MD22|Q5T386|Q9NR25	Frame_Shift_Ins	INS	pfam_Myosin_tail	p.S701fs	ENST00000271636.7	37	c.2099_2100	CCDS999.1	1																																																																																			CGN	-	NULL	ENSG00000143375		0.599	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGN	HGNC	protein_coding	OTTHUMT00000034900.3	65	0.00	0	-	NM_020770		151502028	151502029	+1	no_errors	ENST00000271636	ensembl	human	known	69_37n	frame_shift_ins	66	33.33	33	INS	1.000:1.000	T
CLPP	8192	genome.wustl.edu	37	19	6368628	6368628	+	Frame_Shift_Del	DEL	C	C	-	rs543101664		TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr19:6368628delC	ENST00000245816.4	+	6	864	c.741delC	c.(739-741)cacfs	p.H247fs	CLPP_ENST00000596149.1_Frame_Shift_Del_p.H160fs|CLPP_ENST00000596605.1_3'UTR	NM_006012.2	NP_006003.1	Q16740	CLPP_HUMAN	caseinolytic mitochondrial matrix peptidase proteolytic subunit	247					protein homooligomerization (GO:0051260)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|ovary(2)	6						TTCTGGTCCACCCTCCCCAGG	0.627																																						dbGAP											0													48.0	36.0	40.0					19																	6368628		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			Z50853	CCDS12162.1	19p13.3	2013-09-12	2013-09-12		ENSG00000125656	ENSG00000125656		"""ATPases / AAA-type"""	2084	protein-coding gene	gene with protein product	"""ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human"""	601119	"""ClpP (caseinolytic protease, ATP-dependent, proteolytic subunit, E. coli) homolog"", ""ClpP caseinolytic protease, ATP-dependent, proteolytic subunit homolog (E. coli)"", ""ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli)"""			8543061, 23360988	Standard	NM_006012		Approved		uc002mem.1	Q16740	OTTHUMG00000180779	ENST00000245816.4:c.741delC	19.37:g.6368628delC	ENSP00000245816:p.His247fs		B2R4W5	Frame_Shift_Del	DEL	pfam_ClpP/TepA,prints_ClpP	p.P248fs	ENST00000245816.4	37	c.741	CCDS12162.1	19																																																																																			CLPP	-	NULL	ENSG00000125656		0.627	CLPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPP	HGNC	protein_coding	OTTHUMT00000452984.1	38	0.00	0	C	NM_006012		6368628	6368628	+1	no_errors	ENST00000245816	ensembl	human	known	69_37n	frame_shift_del	29	34.09	15	DEL	1.000	-
CIC	23152	genome.wustl.edu	37	19	42794462	42794462	+	Silent	SNP	C	C	A			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr19:42794462C>A	ENST00000575354.2	+	10	1582	c.1542C>A	c.(1540-1542)ccC>ccA	p.P514P	CIC_ENST00000160740.3_Silent_p.P514P|CIC_ENST00000572681.2_Silent_p.P1423P	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	514	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ACCCTGAGCCCCCAGGGCCCC	0.627			"""Mis, F, S"""		oligodendroglioma																																	dbGAP		Rec	yes		19	19q13.2	23152	capicua homolog		O	0													65.0	65.0	65.0					19																	42794462		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.1542C>A	19.37:g.42794462C>A			Q7LGI1|Q9UEG5|Q9Y6T1	Silent	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.P514	ENST00000575354.2	37	c.1542	CCDS12601.1	19																																																																																			CIC	-	NULL	ENSG00000079432		0.627	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2	105	0.00	0	C			42794462	42794462	+1	no_errors	ENST00000160740	ensembl	human	known	69_37n	silent	38	28.30	15	SNP	1.000	A
CNTLN	54875	genome.wustl.edu	37	9	17236550	17236550	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr9:17236550G>C	ENST00000380647.3	+	5	897	c.813G>C	c.(811-813)ttG>ttC	p.L271F	CNTLN_ENST00000262360.5_Missense_Mutation_p.L271F|CNTLN_ENST00000425824.1_Missense_Mutation_p.L271F|CNTLN_ENST00000380641.4_Missense_Mutation_p.L271F			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	271					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AAGCACATTTGAGAAAAGAAA	0.348																																						dbGAP											0													92.0	93.0	92.0					9																	17236550		1833	4085	5918	-	-	-	SO:0001583	missense	0			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.813G>C	9.37:g.17236550G>C	ENSP00000370021:p.Leu271Phe		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.L271F	ENST00000380647.3	37	c.813	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	G	10.91	1.483441	0.26598	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360;ENST00000380641	T;T;T;T	0.06768	3.26;3.26;3.26;3.26	5.64	5.64	0.86602	.	.	.	.	.	T	0.07007	0.0178	N	0.08118	0	0.28231	N	0.926109	B;B;B	0.14438	0.01;0.01;0.001	B;B;B	0.15870	0.014;0.014;0.001	T	0.33240	-0.9876	9	0.51188	T	0.08	.	19.2997	0.94140	0.0:0.0:1.0:0.0	.	271;271;271	C9J1F9;Q9NXG0-2;Q9NXG0-3	.;.;.	F	271	ENSP00000370021:L271F;ENSP00000392798:L271F;ENSP00000262360:L271F;ENSP00000370015:L271F	ENSP00000262360:L271F	L	+	3	2	CNTLN	17226550	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.102000	0.71486	2.653000	0.90120	0.591000	0.81541	TTG	CNTLN	-	NULL	ENSG00000044459		0.348	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3	281	0.00	0	G	NM_017738		17236550	17236550	+1	no_errors	ENST00000380647	ensembl	human	known	69_37n	missense	81	64.78	149	SNP	1.000	C
COLQ	8292	genome.wustl.edu	37	3	15540055	15540055	+	Intron	SNP	T	T	C			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr3:15540055T>C	ENST00000383788.5	-	2	232				COLQ_ENST00000603808.1_Intron|COLQ_ENST00000435459.2_Missense_Mutation_p.I14V|MIR4270_ENST00000581799.1_RNA|COLQ_ENST00000383786.5_Intron|COLQ_ENST00000383785.2_Intron|COLQ_ENST00000383781.4_Missense_Mutation_p.I14V|COLQ_ENST00000383787.2_Intron	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase						acetylcholine catabolic process in synaptic cleft (GO:0001507)|asymmetric protein localization (GO:0008105)	basal lamina (GO:0005605)|cell junction (GO:0030054)|collagen trimer (GO:0005581)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						AGTCCTGAAATGATGAGCAGA	0.552																																						dbGAP											0													54.0	60.0	58.0					3																	15540055		2040	3935	5975	-	-	-	SO:0001627	intron_variant	0			AF057036	CCDS33709.1, CCDS43057.1, CCDS46768.1	3p	2008-07-18			ENSG00000206561	ENSG00000206561			2226	protein-coding gene	gene with protein product	"""single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase"", ""collagenic tail of endplate acetylcholinesterase"", ""AChE Q subunit"", ""acetylcholinesterase-associated collagen"""	603033				9689136	Standard	NM_005677		Approved	EAD	uc003bzx.3	Q9Y215	OTTHUMG00000156233	ENST00000383788.5:c.107-8911A>G	3.37:g.15540055T>C			B3KY09|Q6DK18|Q6YH18|Q6YH19|Q6YH20|Q6YH21|Q9NP18|Q9NP19|Q9NP20|Q9NP21|Q9NP22|Q9NP23|Q9NP24|Q9UP88	Missense_Mutation	SNP	pfam_Collagen,tigrfam_Myxo_disulph_rpt	p.I14V	ENST00000383788.5	37	c.40	CCDS33709.1	3	.	.	.	.	.	.	.	.	.	.	T	5.968	0.362550	0.11296	.	.	ENSG00000206561	ENST00000383781;ENST00000435459;ENST00000420589;ENST00000430319	D;D	0.90844	-2.74;-2.69	5.14	-2.88	0.05682	.	.	.	.	.	T	0.76688	0.4022	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.61476	-0.7055	9	0.48119	T	0.1	.	5.6843	0.17794	0.0:0.3845:0.1423:0.4732	.	14	Q9Y215-2	.	V	14;14;14;1	ENSP00000373291:I14V;ENSP00000402511:I14V	ENSP00000373291:I14V	I	-	1	0	COLQ	15515059	0.000000	0.05858	0.002000	0.10522	0.523000	0.34469	-2.573000	0.00912	-0.832000	0.04251	-0.379000	0.06801	ATT	COLQ	-	NULL	ENSG00000206561		0.552	COLQ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COLQ	HGNC	protein_coding	OTTHUMT00000343575.1	120	0.00	0	T	NM_005677		15540055	15540055	-1	no_errors	ENST00000383781	ensembl	human	known	69_37n	missense	113	16.06	22	SNP	0.025	C
CSPP1	79848	genome.wustl.edu	37	8	67986496	67986496	+	Silent	SNP	T	T	C			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr8:67986496T>C	ENST00000262210.5	+	2	148	c.117T>C	c.(115-117)gaT>gaC	p.D39D	CSPP1_ENST00000412460.1_5'UTR|COPS5_ENST00000519963.1_Intron	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	39					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AAATGGCTGATAATTTGGATG	0.333																																						dbGAP											0													80.0	83.0	82.0					8																	67986496		1802	4068	5870	-	-	-	SO:0001819	synonymous_variant	0			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.117T>C	8.37:g.67986496T>C			A6ND63|Q70F00|Q8TBC1	Silent	SNP	NULL	p.D39	ENST00000262210.5	37	c.117	CCDS43744.1	8																																																																																			CSPP1	-	NULL	ENSG00000104218		0.333	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSPP1	HGNC	protein_coding	OTTHUMT00000379254.1	145	0.00	0	T	NM_024790		67986496	67986496	+1	no_errors	ENST00000262210	ensembl	human	known	69_37n	silent	105	18.46	24	SNP	1.000	C
CWH43	80157	genome.wustl.edu	37	4	49040079	49040079	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr4:49040079C>G	ENST00000226432.4	+	13	1868	c.1685C>G	c.(1684-1686)gCt>gGt	p.A562G	CWH43_ENST00000513409.1_Missense_Mutation_p.A535G	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	562					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						AAACTGCAGGCTATTGCTGTT	0.358																																						dbGAP											0													132.0	138.0	136.0					4																	49040079		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1685C>G	4.37:g.49040079C>G	ENSP00000226432:p.Ala562Gly		B2RPD7	Missense_Mutation	SNP	superfamily_Endo/exonuclease/phosphatase	p.A562G	ENST00000226432.4	37	c.1685	CCDS3486.1	4	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653081	0.67472	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.34859	1.34;1.34	3.72	3.72	0.42706	Endonuclease/exonuclease/phosphatase (1);	0.000000	0.64402	D	0.000020	T	0.53158	0.1779	L	0.53249	1.67	0.43047	D	0.994648	D	0.89917	1.0	D	0.85130	0.997	T	0.52215	-0.8605	9	.	.	.	.	14.5368	0.67966	0.0:1.0:0.0:0.0	.	562	Q9H720	PG2IP_HUMAN	G	562;535	ENSP00000226432:A562G;ENSP00000422802:A535G	.	A	+	2	0	CWH43	48734836	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	4.592000	0.61027	2.377000	0.81083	0.555000	0.69702	GCT	CWH43	-	superfamily_Endo/exonuclease/phosphatase	ENSG00000109182		0.358	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWH43	HGNC	protein_coding	OTTHUMT00000250496.2	94	0.00	0	C	NM_025087		49040079	49040079	+1	no_errors	ENST00000226432	ensembl	human	known	69_37n	missense	27	32.50	13	SNP	1.000	G
DGKE	8526	genome.wustl.edu	37	17	54912172	54912173	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr17:54912172_54912173insG	ENST00000284061.3	+	2	196_197	c.16_17insG	c.(16-18)cggfs	p.R6fs	C17orf67_ENST00000397861.2_5'Flank|DGKE_ENST00000572810.1_Frame_Shift_Ins_p.R6fs|C17orf67_ENST00000575658.1_5'Flank|C17orf67_ENST00000487705.1_Intron|DGKE_ENST00000576869.1_3'UTR	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	6					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					AGCGGAGAGGCGGCCGGCGCCG	0.649																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"""diacylglycerol kinase, epsilon (64kD)"""			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.18dupG	17.37:g.54912174_54912174dupG	ENSP00000284061:p.Arg6fs		Q8TBM4|Q9UKQ3	Frame_Shift_Ins	INS	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.P7fs	ENST00000284061.3	37	c.16_17	CCDS11590.1	17																																																																																			DGKE	-	NULL	ENSG00000153933		0.649	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKE	HGNC	protein_coding	OTTHUMT00000440601.1	36	0.00	0	-	NM_003647		54912172	54912173	+1	no_errors	ENST00000284061	ensembl	human	known	69_37n	frame_shift_ins	11	15.38	2	INS	0.464:0.463	G
DNAJC9	23234	genome.wustl.edu	37	10	75003261	75003261	+	Missense_Mutation	SNP	C	C	G	rs148829608		TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr10:75003261C>G	ENST00000372950.4	-	5	2352	c.680G>C	c.(679-681)cGg>cCg	p.R227P	FAM149B1_ENST00000242505.6_3'UTR|DNAJC9_ENST00000453189.2_5'Flank	NM_015190.3	NP_056005.1	Q8WXX5	DNJC9_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 9	227					social behavior (GO:0035176)	nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|stomach(1)	6	Prostate(51;0.0119)					TTCCTTTTGCCGATCCTTTTG	0.408																																						dbGAP											0													111.0	108.0	109.0					10																	75003261		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF327347	CCDS7322.1	10q22.3	2011-09-02			ENSG00000213551	ENSG00000213551		"""Heat shock proteins / DNAJ (HSP40)"""	19123	protein-coding gene	gene with protein product		611206					Standard	NM_015190		Approved	JDD1, SB73	uc001jtr.3	Q8WXX5	OTTHUMG00000018461	ENST00000372950.4:c.680G>C	10.37:g.75003261C>G	ENSP00000362041:p.Arg227Pro		B2RMW6	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,prints_Hsp_DnaJ,pfscan_DnaJ_N	p.R227P	ENST00000372950.4	37	c.680	CCDS7322.1	10	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518804	0.85495	.	.	ENSG00000213551	ENST00000372950	T	0.26373	1.74	5.88	5.88	0.94601	.	0.051103	0.85682	D	0.000000	T	0.61185	0.2327	M	0.92122	3.275	0.58432	D	0.999999	D	0.76494	0.999	D	0.67900	0.954	T	0.69975	-0.4999	10	0.87932	D	0	.	17.7145	0.88332	0.0:1.0:0.0:0.0	.	227	Q8WXX5	DNJC9_HUMAN	P	227	ENSP00000362041:R227P	ENSP00000362041:R227P	R	-	2	0	DNAJC9	74673267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.595000	0.54016	2.790000	0.95986	0.591000	0.81541	CGG	DNAJC9	-	NULL	ENSG00000213551		0.408	DNAJC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC9	HGNC	protein_coding	OTTHUMT00000048643.1	148	0.00	0	C	NM_015190		75003261	75003261	-1	no_errors	ENST00000372950	ensembl	human	known	69_37n	missense	68	12.82	10	SNP	1.000	G
DHX32	55760	genome.wustl.edu	37	10	127527584	127527584	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr10:127527584C>G	ENST00000284690.3	-	9	2357	c.1867G>C	c.(1867-1869)Ggt>Cgt	p.G623R	BCCIP_ENST00000368759.5_Intron|BCCIP_ENST00000299130.3_Intron|DHX32_ENST00000284688.6_Missense_Mutation_p.G542R|BCCIP_ENST00000429863.2_Intron|DHX32_ENST00000368721.1_Missense_Mutation_p.G247R	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	623						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.G623S(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATAAAGTAACCGGACAGAAGA	0.453																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											233.0	233.0	233.0					10																	127527584		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.1867G>C	10.37:g.127527584C>G	ENSP00000284690:p.Gly623Arg		A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd	p.G623R	ENST00000284690.3	37	c.1867	CCDS7652.1	10	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535615	0.85812	.	.	ENSG00000089876	ENST00000368721;ENST00000284690;ENST00000284688	T;T;T	0.46819	0.86;2.81;2.57	5.02	5.02	0.67125	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.77909	0.4201	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84565	0.0652	10	0.87932	D	0	-30.2538	17.509	0.87755	0.0:1.0:0.0:0.0	.	623	Q7L7V1	DHX32_HUMAN	R	247;623;542	ENSP00000357710:G247R;ENSP00000284690:G623R;ENSP00000284688:G542R	ENSP00000284688:G542R	G	-	1	0	DHX32	127517574	1.000000	0.71417	0.487000	0.27428	0.861000	0.49209	7.413000	0.80104	2.597000	0.87782	0.655000	0.94253	GGT	DHX32	-	pfam_DUF1605	ENSG00000089876		0.453	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX32	HGNC	protein_coding	OTTHUMT00000050945.2	92	0.00	0	C	NM_018180		127527584	127527584	-1	no_errors	ENST00000284690	ensembl	human	known	69_37n	missense	57	23.38	18	SNP	0.999	G
DTX1	1840	genome.wustl.edu	37	12	113496004	113496004	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr12:113496004C>G	ENST00000257600.3	+	1	510	c.7C>G	c.(7-9)Cgg>Ggg	p.R3G		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	3					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GGCCATGTCACGGCCAGGCCA	0.682																																						dbGAP											0													27.0	23.0	25.0					12																	113496004		2200	4293	6493	-	-	-	SO:0001583	missense	0			AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.7C>G	12.37:g.113496004C>G	ENSP00000257600:p.Arg3Gly		O60630|Q9BS04	Missense_Mutation	SNP	pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.R3G	ENST00000257600.3	37	c.7	CCDS9164.1	12	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680652	0.68042	.	.	ENSG00000135144	ENST00000257600	T	0.13901	2.55	3.89	1.76	0.24704	.	0.203964	0.30428	U	0.009646	T	0.23210	0.0561	L	0.34521	1.04	0.41357	D	0.987402	D	0.63880	0.993	D	0.71184	0.972	T	0.02371	-1.1169	10	0.87932	D	0	-5.8282	11.9651	0.53029	0.3389:0.6611:0.0:0.0	.	3	Q86Y01	DTX1_HUMAN	G	3	ENSP00000257600:R3G	ENSP00000257600:R3G	R	+	1	2	DTX1	111980387	0.981000	0.34729	0.997000	0.53966	0.900000	0.52787	2.047000	0.41269	0.811000	0.34303	0.549000	0.68633	CGG	DTX1	-	NULL	ENSG00000135144		0.682	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX1	HGNC	protein_coding	OTTHUMT00000405045.2	24	0.00	0	C			113496004	113496004	+1	no_errors	ENST00000257600	ensembl	human	known	69_37n	missense	3	62.50	5	SNP	0.993	G
EFNB2	1948	genome.wustl.edu	37	13	107187297	107187297	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr13:107187297C>A	ENST00000245323.4	-	1	165	c.16G>T	c.(16-18)Gac>Tac	p.D6Y		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	6					anatomical structure morphogenesis (GO:0009653)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|lymph vessel development (GO:0001945)|negative regulation of keratinocyte proliferation (GO:0010839)|organ morphogenesis (GO:0009887)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|regulation of chemotaxis (GO:0050920)|viral process (GO:0016032)	focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CACACGGAGTCCCTTCTCACA	0.557																																						dbGAP											0													77.0	85.0	83.0					13																	107187297		2202	4300	6502	-	-	-	SO:0001583	missense	0			L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266		"""Ephrins"""	3227	protein-coding gene	gene with protein product	"""HTK ligand"", ""ligand of eph-related kinase 5"", ""eph-related receptor tyrosine kinase ligand 5"""	600527		EPLG5		7833926	Standard	NM_004093		Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.16G>T	13.37:g.107187297C>A	ENSP00000245323:p.Asp6Tyr		Q5JV56	Missense_Mutation	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.D6Y	ENST00000245323.4	37	c.16	CCDS9507.1	13	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479172	0.44044	.	.	ENSG00000125266	ENST00000245323	D	0.91577	-2.87	4.27	3.4	0.38934	.	0.684842	0.14384	N	0.322944	D	0.87184	0.6114	L	0.47716	1.5	0.40813	D	0.983442	B	0.29805	0.257	B	0.26969	0.075	D	0.83972	0.0327	10	0.59425	D	0.04	.	13.6308	0.62193	0.0:0.6831:0.3169:0.0	.	6	P52799	EFNB2_HUMAN	Y	6	ENSP00000245323:D6Y	ENSP00000245323:D6Y	D	-	1	0	EFNB2	105985298	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	3.798000	0.55522	0.747000	0.32809	0.456000	0.33151	GAC	EFNB2	-	NULL	ENSG00000125266		0.557	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNB2	HGNC	protein_coding	OTTHUMT00000045733.4	54	0.00	0	C	NM_004093		107187297	107187297	-1	no_errors	ENST00000245323	ensembl	human	known	69_37n	missense	46	34.29	24	SNP	1.000	A
EHMT1	79813	genome.wustl.edu	37	9	140729314	140729315	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr9:140729314_140729315insA	ENST00000460843.1	+	27	3833_3834	c.3806_3807insA	c.(3805-3810)gccctgfs	p.L1270fs		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1270					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TCGAGCGCGGCCCTGGCCCAGC	0.708																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	Exception_encountered	9.37:g.140729314_140729315insA	ENSP00000417980:p.Leu1270fs		B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Frame_Shift_Ins	INS	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.L1270fs	ENST00000460843.1	37	c.3806_3807	CCDS7050.2	9																																																																																			EHMT1	-	NULL	ENSG00000181090		0.708	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2	15	0.00	0	-	NM_024757		140729314	140729315	+1	no_errors	ENST00000460843	ensembl	human	known	69_37n	frame_shift_ins	3	50.00	3	INS	1.000:1.000	A
ERBB3	2065	genome.wustl.edu	37	12	56486553	56486553	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr12:56486553G>C	ENST00000267101.3	+	10	1572	c.1132G>C	c.(1132-1134)Gcc>Ccc	p.A378P	ERBB3_ENST00000415288.2_Missense_Mutation_p.A319P|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	378					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAAGATCCCTGCCCTGGACCC	0.493																																						dbGAP											0													109.0	108.0	108.0					12																	56486553		2203	4300	6503	-	-	-	SO:0001583	missense	0			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.1132G>C	12.37:g.56486553G>C	ENSP00000267101:p.Ala378Pro		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.A378P	ENST00000267101.3	37	c.1132	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	G	10.35	1.325344	0.24080	.	.	ENSG00000065361	ENST00000267101;ENST00000415288	T;T	0.41758	0.99;0.99	5.14	4.22	0.49857	EGF receptor, L domain (1);	0.180463	0.37178	N	0.002206	T	0.22551	0.0544	N	0.04746	-0.17	0.80722	D	1	B	0.14805	0.011	B	0.23852	0.049	T	0.05550	-1.0878	10	0.10377	T	0.69	.	14.4308	0.67249	0.0:0.1487:0.8513:0.0	.	378	P21860	ERBB3_HUMAN	P	378;319	ENSP00000267101:A378P;ENSP00000408340:A319P	ENSP00000267101:A378P	A	+	1	0	ERBB3	54772820	0.447000	0.25673	0.898000	0.35279	0.998000	0.95712	0.956000	0.29202	1.335000	0.45486	0.655000	0.94253	GCC	ERBB3	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L	ENSG00000065361		0.493	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	70	0.00	0	G			56486553	56486553	+1	no_errors	ENST00000267101	ensembl	human	known	69_37n	missense	18	67.27	37	SNP	0.993	C
ESYT2	57488	genome.wustl.edu	37	7	158529792	158529792	+	Silent	SNP	T	T	G			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr7:158529792T>G	ENST00000251527.5	-	19	2492	c.2427A>C	c.(2425-2427)ggA>ggC	p.G809G	ESYT2_ENST00000435514.2_Silent_p.G244G	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	837	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TTTTCCTCCTTCCTGACCGCC	0.443																																						dbGAP											0													206.0	180.0	189.0					7																	158529792		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"""Synaptotagmins"""	22211	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member B"""	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.2427A>C	7.37:g.158529792T>G			A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.G809	ENST00000251527.5	37	c.2427	CCDS34791.1	7																																																																																			ESYT2	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000117868		0.443	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESYT2	HGNC	protein_coding	OTTHUMT00000322647.1	298	0.00	0	T	NM_020728		158529792	158529792	-1	no_errors	ENST00000251527	ensembl	human	known	69_37n	silent	70	31.82	35	SNP	0.995	G
FAM135A	57579	genome.wustl.edu	37	6	71243517	71243517	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr6:71243517C>T	ENST00000418814.2	+	18	4539	c.3925C>T	c.(3925-3927)Cag>Tag	p.Q1309*	FAM135A_ENST00000505769.1_Nonsense_Mutation_p.Q889*|FAM135A_ENST00000505868.1_Nonsense_Mutation_p.Q1309*|FAM135A_ENST00000370479.3_Nonsense_Mutation_p.Q1096*|FAM135A_ENST00000457062.2_Nonsense_Mutation_p.Q1096*|FAM135A_ENST00000361499.3_Nonsense_Mutation_p.Q1113*	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1309										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TGAGATAATACAGTATATTCA	0.249																																						dbGAP											0													96.0	94.0	94.0					6																	71243517		2199	4282	6481	-	-	-	SO:0001587	stop_gained	0			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.3925C>T	6.37:g.71243517C>T	ENSP00000410768:p.Gln1309*		A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Nonsense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase	p.Q1309*	ENST00000418814.2	37	c.3925	CCDS55028.1	6	.	.	.	.	.	.	.	.	.	.	C	44	10.662206	0.99445	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000457062;ENST00000361499;ENST00000505868	.	.	.	5.15	5.15	0.70609	.	0.052414	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	18.9956	0.92812	0.0:1.0:0.0:0.0	.	.	.	.	X	1309;1096;889;1096;1113;1309	.	ENSP00000354913:Q1113X	Q	+	1	0	FAM135A	71300238	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.697000	0.84279	2.553000	0.86117	0.557000	0.71058	CAG	FAM135A	-	pfam_DUF676_lipase-like,pfam_PGAP1-like	ENSG00000082269		0.249	FAM135A-001	KNOWN	basic|CCDS	protein_coding	FAM135A	HGNC	protein_coding	OTTHUMT00000041137.2	146	0.00	0	C	NM_020819		71243517	71243517	+1	no_errors	ENST00000418814	ensembl	human	known	69_37n	nonsense	34	31.37	16	SNP	1.000	T
FAM47C	442444	genome.wustl.edu	37	X	37026498	37026498	+	Silent	SNP	G	G	A			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chrX:37026498G>A	ENST00000358047.3	+	1	67	c.15G>A	c.(13-15)agG>agA	p.R5R		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	5										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGGACCAGAGGCCGCAGGACC	0.662																																						dbGAP											0													13.0	14.0	14.0					X																	37026498		2199	4291	6490	-	-	-	SO:0001819	synonymous_variant	0			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.15G>A	X.37:g.37026498G>A			Q6ZU46	Silent	SNP	NULL	p.R5	ENST00000358047.3	37	c.15	CCDS35227.1	X																																																																																			FAM47C	-	NULL	ENSG00000198173		0.662	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	HGNC	protein_coding	OTTHUMT00000060508.1	83	0.00	0	G	NM_001013736		37026498	37026498	+1	no_errors	ENST00000358047	ensembl	human	known	69_37n	silent	37	17.78	8	SNP	0.005	A
RMDN2	151393	genome.wustl.edu	37	2	38178420	38178420	+	Intron	SNP	A	A	G			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr2:38178420A>G	ENST00000406384.1	+	2	646				RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000407257.1_Missense_Mutation_p.D21G|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000402091.3_Missense_Mutation_p.D21G|RMDN2_ENST00000234195.3_Missense_Mutation_p.D21G	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)											TCTCCAGAAGATCAAGTTAGT	0.433																																						dbGAP											0													76.0	74.0	75.0					2																	38178420		2203	4299	6502	-	-	-	SO:0001627	intron_variant	0			AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"""family with sequence similarity 82, member A1"""	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.452+21548A>G	2.37:g.38178420A>G			A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Missense_Mutation	SNP	NULL	p.D21G	ENST00000406384.1	37	c.62	CCDS54351.1	2	.	.	.	.	.	.	.	.	.	.	A	14.27	2.485476	0.44147	.	.	ENSG00000115841	ENST00000407257;ENST00000234195;ENST00000402091	T;T	0.55588	0.51;0.51	4.72	2.32	0.28847	.	0.551779	0.13642	N	0.372867	T	0.35624	0.0938	N	0.24115	0.695	0.09310	N	1	B	0.17667	0.023	B	0.16289	0.015	T	0.29579	-1.0007	10	0.87932	D	0	-12.7211	6.2255	0.20706	0.7979:0.0:0.2021:0.0	.	21	Q96LZ7-2	.	G	21	ENSP00000385049:D21G;ENSP00000234195:D21G	ENSP00000234195:D21G	D	+	2	0	FAM82A1	38031924	0.036000	0.19791	0.000000	0.03702	0.049000	0.14656	1.508000	0.35769	0.398000	0.25338	0.533000	0.62120	GAT	FAM82A1	-	NULL	ENSG00000115841		0.433	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM82A1	HGNC	protein_coding	OTTHUMT00000325577.1	147	0.00	0	A	NM_144713		38178420	38178420	+1	no_errors	ENST00000234195	ensembl	human	known	69_37n	missense	101	10.62	12	SNP	0.001	G
FAT3	120114	genome.wustl.edu	37	11	92085295	92085296	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr11:92085295_92085296insA	ENST00000298047.6	+	1	34_35	c.17_18insA	c.(16-21)ggacacfs	p.H7fs	FAT3_ENST00000409404.2_Frame_Shift_Ins_p.H7fs|FAT3_ENST00000525166.1_5'Flank|FAT3_ENST00000541502.1_Frame_Shift_Ins_p.H7fs			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	7					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATAATTATGGGACACTGTGTGG	0.51										TCGA Ovarian(4;0.039)																												dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.18dupA	11.37:g.92085296_92085296dupA	ENSP00000298047:p.His7fs		B5MDB0|Q96AU6	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.H7fs	ENST00000298047.6	37	c.17_18		11																																																																																			FAT3	-	NULL	ENSG00000165323		0.510	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		40	0.00	0	-	NM_001008781		92085295	92085296	+1	no_errors	ENST00000298047	ensembl	human	known	69_37n	frame_shift_ins	38	11.63	5	INS	1.000:0.949	A
FAT3	120114	genome.wustl.edu	37	11	92085300	92085301	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr11:92085300_92085301insG	ENST00000298047.6	+	1	39_40	c.22_23insG	c.(22-24)tgtfs	p.C8fs	FAT3_ENST00000409404.2_Frame_Shift_Ins_p.C8fs|FAT3_ENST00000525166.1_5'Flank|FAT3_ENST00000541502.1_Frame_Shift_Ins_p.C8fs			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	8					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TATGGGACACTGTGTGGGCACA	0.515										TCGA Ovarian(4;0.039)																												dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.23dupG	11.37:g.92085301_92085301dupG	ENSP00000298047:p.Cys8fs		B5MDB0|Q96AU6	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.C8fs	ENST00000298047.6	37	c.22_23		11																																																																																			FAT3	-	NULL	ENSG00000165323		0.515	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		43	0.00	0	-	NM_001008781		92085300	92085301	+1	no_errors	ENST00000298047	ensembl	human	known	69_37n	frame_shift_ins	40	11.11	5	INS	0.997:1.000	G
FBXO18	84893	genome.wustl.edu	37	10	5948163	5948163	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr10:5948163delC	ENST00000362091.4	+	3	436	c.321delC	c.(319-321)ggcfs	p.G107fs	FBXO18_ENST00000379999.5_Frame_Shift_Del_p.G158fs|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000397269.3_5'UTR	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	107					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CTCAGGAAGGCAGTGCAGGGC	0.612																																						dbGAP											0													41.0	45.0	44.0					10																	5948163		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.321delC	10.37:g.5948163delC	ENSP00000355415:p.Gly107fs		Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Frame_Shift_Del	DEL	pfam_UvrD-like_ATP-bd,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.S159fs	ENST00000362091.4	37	c.474	CCDS7072.1	10																																																																																			FBXO18	-	NULL	ENSG00000134452		0.612	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO18	HGNC	protein_coding	OTTHUMT00000046596.1	66	0.00	0	C	NM_032807		5948163	5948163	+1	no_errors	ENST00000379999	ensembl	human	known	69_37n	frame_shift_del	15	11.11	2	DEL	0.000	-
FIP1L1	81608	genome.wustl.edu	37	4	54243929	54243930	+	5'UTR	INS	-	-	C			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr4:54243929_54243930insC	ENST00000337488.6	+	0	118_119				FIP1L1_ENST00000306932.6_5'UTR|FIP1L1_ENST00000507922.1_5'UTR|FIP1L1_ENST00000507166.1_5'Flank|FIP1L1_ENST00000358575.5_5'UTR	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1						mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CCCTTCTCGCGCCTCGGGGCTG	0.683			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	dbGAP		Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.-76->C	4.37:g.54243931_54243931dupC			B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	RNA	INS	-	NULL	ENST00000337488.6	37	NULL	CCDS3491.1	4																																																																																			FIP1L1	-	-	ENSG00000145216		0.683	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	FIP1L1	HGNC	protein_coding	OTTHUMT00000250602.1	89	0.00	0	-	NM_030917		54243929	54243930	+1	no_errors	ENST00000511376	ensembl	human	known	69_37n	rna	14	12.50	2	INS	0.968:0.579	C
FLG2	388698	genome.wustl.edu	37	1	152329344	152329344	+	Silent	SNP	T	T	C			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr1:152329344T>C	ENST00000388718.5	-	3	990	c.918A>G	c.(916-918)caA>caG	p.Q306Q	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	306	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTGATTTCCTTGCCCTCCAA	0.483																																						dbGAP											0													196.0	184.0	188.0					1																	152329344		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.918A>G	1.37:g.152329344T>C			Q9H4U1	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.Q306	ENST00000388718.5	37	c.918	CCDS30861.1	1																																																																																			FLG2	-	NULL	ENSG00000143520		0.483	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	73	0.00	0	T	NM_001014342		152329344	152329344	-1	no_errors	ENST00000388718	ensembl	human	known	69_37n	silent	38	46.58	34	SNP	0.067	C
FLNC	2318	genome.wustl.edu	37	7	128491563	128491563	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr7:128491563delA	ENST00000325888.8	+	35	5984	c.5723delA	c.(5722-5724)gacfs	p.D1908fs	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Frame_Shift_Del_p.D1875fs	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1908					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ACCTGTAAGGACAACAAGGAT	0.617																																						dbGAP											0													92.0	107.0	102.0					7																	128491563		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5723delA	7.37:g.128491563delA	ENSP00000327145:p.Asp1908fs		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Frame_Shift_Del	DEL	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.D1908fs	ENST00000325888.8	37	c.5723	CCDS43644.1	7																																																																																			FLNC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000128591		0.617	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	67	0.00	0	A			128491563	128491563	+1	no_errors	ENST00000325888	ensembl	human	known	69_37n	frame_shift_del	32	28.26	13	DEL	1.000	-
FLT4	2324	genome.wustl.edu	37	5	180058766	180058766	+	Frame_Shift_Del	DEL	C	C	-	rs1130376		TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr5:180058766delC	ENST00000261937.6	-	2	149	c.71delG	c.(70-72)ggcfs	p.G24fs	FLT4_ENST00000393347.3_Frame_Shift_Del_p.G24fs|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Frame_Shift_Del_p.G24fs	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	24				G -> D (in Ref. 3; CAA49505 and 7; AAO89504/AAO89505). {ECO:0000305}.	blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CATGGAGTAGCCACTCACCAG	0.622																																					Colon(97;1075 1466 27033 27547 35871)	dbGAP											0													60.0	51.0	54.0					5																	180058766		2203	4298	6501	-	-	-	SO:0001589	frameshift_variant	0			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.71delG	5.37:g.180058766delC	ENSP00000261937:p.Gly24fs		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.G24fs	ENST00000261937.6	37	c.71	CCDS4457.1	5																																																																																			FLT4	-	prints_Tyr_kinase_VEGFR3_rcpt_N	ENSG00000037280		0.622	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	HGNC	protein_coding	OTTHUMT00000253527.4	15	0.00	0	C			180058766	180058766	-1	no_errors	ENST00000261937	ensembl	human	known	69_37n	frame_shift_del	58	77.04	198	DEL	1.000	-
FLT4	2324	genome.wustl.edu	37	5	180058770	180058771	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr5:180058770_180058771insG	ENST00000261937.6	-	2	144_145	c.66_67insC	c.(64-69)gtgagtfs	p.S23fs	FLT4_ENST00000393347.3_Frame_Shift_Ins_p.S23fs|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Frame_Shift_Ins_p.S23fs	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	23					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAGTAGCCACTCACCAGGCCTG	0.624																																					Colon(97;1075 1466 27033 27547 35871)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.66_67insC	5.37:g.180058770_180058771insG	ENSP00000261937:p.Ser23fs		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Frame_Shift_Ins	INS	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.S22fs	ENST00000261937.6	37	c.67_66	CCDS4457.1	5																																																																																			FLT4	-	prints_Tyr_kinase_VEGFR3_rcpt_N	ENSG00000037280		0.624	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	HGNC	protein_coding	OTTHUMT00000253527.4	13	0.00	0	-			180058770	180058771	-1	no_errors	ENST00000261937	ensembl	human	known	69_37n	frame_shift_ins	20	90.78	197	INS	0.585:0.029	G
FLT4	2324	genome.wustl.edu	37	5	180058772	180058773	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr5:180058772_180058773insCT	ENST00000261937.6	-	2	142_143	c.64_65insAG	c.(64-66)gtgfs	p.V22fs	FLT4_ENST00000393347.3_Frame_Shift_Ins_p.V22fs|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Frame_Shift_Ins_p.V22fs	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	22					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTAGCCACTCACCAGGCCTGGG	0.624																																					Colon(97;1075 1466 27033 27547 35871)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.64_65insAG	5.37:g.180058772_180058773insCT	ENSP00000261937:p.Val22fs		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Frame_Shift_Ins	INS	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.V22fs	ENST00000261937.6	37	c.65_64	CCDS4457.1	5																																																																																			FLT4	-	prints_Tyr_kinase_VEGFR3_rcpt_N	ENSG00000037280		0.624	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	HGNC	protein_coding	OTTHUMT00000253527.4	13	0.00	0	-			180058772	180058773	-1	no_errors	ENST00000261937	ensembl	human	known	69_37n	frame_shift_ins	27	87.14	183	INS	0.025:0.997	CT
FLT4	2324	genome.wustl.edu	37	5	180058776	180058776	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr5:180058776delG	ENST00000261937.6	-	2	139	c.61delC	c.(61-63)ctgfs	p.L21fs	FLT4_ENST00000393347.3_Frame_Shift_Del_p.L21fs|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Frame_Shift_Del_p.L21fs	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	21					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCACTCACCAGGCCTGGGGTG	0.622																																					Colon(97;1075 1466 27033 27547 35871)	dbGAP											0													55.0	47.0	50.0					5																	180058776		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.61delC	5.37:g.180058776delG	ENSP00000261937:p.Leu21fs		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.L21fs	ENST00000261937.6	37	c.61	CCDS4457.1	5																																																																																			FLT4	-	prints_Tyr_kinase_VEGFR3_rcpt_N	ENSG00000037280		0.622	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	HGNC	protein_coding	OTTHUMT00000253527.4	14	0.00	0	G			180058776	180058776	-1	no_errors	ENST00000261937	ensembl	human	known	69_37n	frame_shift_del	15	91.35	190	DEL	1.000	-
FNIP1	96459	genome.wustl.edu	37	5	131039813	131039814	+	Frame_Shift_Ins	INS	-	-	A	rs13177318	byFrequency	TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr5:131039813_131039814insA	ENST00000510461.1	-	10	1155_1156	c.1060_1061insT	c.(1060-1062)tcafs	p.S354fs	CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307968.7_Frame_Shift_Ins_p.S326fs|FNIP1_ENST00000307954.8_Frame_Shift_Ins_p.S309fs|FNIP1_ENST00000511848.1_Frame_Shift_Ins_p.S354fs	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	354			S -> L (in dbSNP:rs13177318).		cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		AGGAAAATGTGAAAAAAAGAAT	0.287																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1061dupT	5.37:g.131039820_131039820dupA	ENSP00000421985:p.Ser354fs		D6RJH5|Q86T47|Q9BUT0	Frame_Shift_Ins	INS	NULL	p.S354fs	ENST00000510461.1	37	c.1061_1060	CCDS34227.1	5																																																																																			FNIP1	-	NULL	ENSG00000217128		0.287	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FNIP1	HGNC	protein_coding	OTTHUMT00000370077.1	48	0.00	0	-	NM_133372		131039813	131039814	-1	no_errors	ENST00000510461	ensembl	human	known	69_37n	frame_shift_ins	13	13.33	2	INS	1.000:1.000	A
FSHR	2492	genome.wustl.edu	37	2	49191077	49191080	+	Frame_Shift_Del	DEL	ATTT	ATTT	-			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	ATTT	ATTT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr2:49191077_49191080delATTT	ENST00000406846.2	-	10	999_1002	c.880_883delAAAT	c.(880-885)aaatctfs	p.KS294fs	FSHR_ENST00000346173.3_Frame_Shift_Del_p.KS232fs|FSHR_ENST00000304421.4_Frame_Shift_Del_p.KS268fs|FSHR_ENST00000541117.1_Frame_Shift_Del_p.KS30fs	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	294					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	CTTAAAATAGATTTGTTGCAAATT	0.392									Gonadal Dysgenesis, 46 XX																													dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.880_883delAAAT	2.37:g.49191077_49191080delATTT	ENSP00000384708:p.Lys294fs		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Frame_Shift_Del	DEL	pfam_7TM_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_supfam,prints_FSH_rcpt,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_TSH_rcpt	p.K294fs	ENST00000406846.2	37	c.883_880	CCDS1843.1	2																																																																																			FSHR	-	pfam_GnHR_TM,prints_FSH_rcpt	ENSG00000170820		0.392	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSHR	HGNC	protein_coding	OTTHUMT00000251367.2	190	0.00	0	ATTT			49191077	49191080	-1	no_errors	ENST00000406846	ensembl	human	known	69_37n	frame_shift_del	154	40.75	119	DEL	0.998:0.998:1.000:1.000	-
GPNMB	10457	genome.wustl.edu	37	7	23300153	23300153	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr7:23300153C>T	ENST00000381990.2	+	6	940	c.779C>T	c.(778-780)cCc>cTc	p.P260L	GPNMB_ENST00000539136.1_Missense_Mutation_p.P161L|GPNMB_ENST00000453162.2_Missense_Mutation_p.P202L|GPNMB_ENST00000258733.4_Missense_Mutation_p.P260L	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	260	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			AAAGATCTCCCCATTATGTTT	0.413																																						dbGAP											0													183.0	162.0	169.0					7																	23300153		2203	4300	6503	-	-	-	SO:0001583	missense	0			X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.779C>T	7.37:g.23300153C>T	ENSP00000371420:p.Pro260Leu		A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.P260L	ENST00000381990.2	37	c.779	CCDS34610.1	7	.	.	.	.	.	.	.	.	.	.	C	17.96	3.517009	0.64634	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000425903;ENST00000539136;ENST00000453162	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	5.31	5.31	0.75309	PKD/Chitinase domain (1);PKD domain (1);	0.000000	0.64402	D	0.000001	T	0.41971	0.1182	M	0.78637	2.42	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	T	0.30851	-0.9964	10	0.66056	D	0.02	-23.0555	19.3409	0.94340	0.0:1.0:0.0:0.0	.	161;202;260;260	F6SKP1;F5GY20;Q14956;Q14956-2	.;.;GPNMB_HUMAN;.	L	260;295;260;143;161;202	ENSP00000258733:P260L;ENSP00000371420:P260L;ENSP00000445266:P161L;ENSP00000405586:P202L	ENSP00000258733:P260L	P	+	2	0	GPNMB	23266678	0.994000	0.37717	0.992000	0.48379	0.421000	0.31385	3.912000	0.56386	2.640000	0.89533	0.655000	0.94253	CCC	GPNMB	-	superfamily_PKD_dom,smart_PKD/Chitinase_dom	ENSG00000136235		0.413	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPNMB	HGNC	protein_coding	OTTHUMT00000327152.1	167	0.00	0	C	NM_001005340		23300153	23300153	+1	no_errors	ENST00000381990	ensembl	human	known	69_37n	missense	116	33.33	58	SNP	1.000	T
GIMAP7	168537	genome.wustl.edu	37	7	150217085	150217085	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr7:150217085C>A	ENST00000313543.4	+	2	180	c.23C>A	c.(22-24)tCc>tAc	p.S8Y		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	8	AIG1-type G.				GTP catabolic process (GO:0006184)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGGACCGCTCCCTGAGGATC	0.493																																						dbGAP											0													64.0	58.0	60.0					7																	150217085		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC027613	CCDS5903.1	7q36.1	2014-04-04			ENSG00000179144	ENSG00000179144		"""GTPases, IMAP"""	22404	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 7"""					15474311	Standard	NM_153236		Approved	MGC27027, IAN7	uc003whk.3	Q8NHV1	OTTHUMG00000157626	ENST00000313543.4:c.23C>A	7.37:g.150217085C>A	ENSP00000315474:p.Ser8Tyr			Missense_Mutation	SNP	pfam_AIG1	p.S8Y	ENST00000313543.4	37	c.23	CCDS5903.1	7	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679141	0.47886	.	.	ENSG00000179144	ENST00000313543	T	0.60171	0.21	4.98	2.95	0.34219	.	1.268860	0.05308	N	0.524225	T	0.47116	0.1428	N	0.25485	0.75	0.09310	N	1	P	0.51653	0.947	P	0.44561	0.453	T	0.42396	-0.9454	10	0.66056	D	0.02	.	4.4728	0.11720	0.234:0.6486:0.0:0.1173	.	8	Q8NHV1	GIMA7_HUMAN	Y	8	ENSP00000315474:S8Y	ENSP00000315474:S8Y	S	+	2	0	GIMAP7	149848018	0.000000	0.05858	0.003000	0.11579	0.051000	0.14879	-0.293000	0.08320	1.283000	0.44513	0.655000	0.94253	TCC	GIMAP7	-	NULL	ENSG00000179144		0.493	GIMAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP7	HGNC	protein_coding	OTTHUMT00000349277.1	74	0.00	0	C	NM_153236		150217085	150217085	+1	no_errors	ENST00000313543	ensembl	human	known	69_37n	missense	16	56.76	21	SNP	0.001	A
GRK6	2870	genome.wustl.edu	37	5	176863238	176863238	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr5:176863238delT	ENST00000355472.5	+	12	1390	c.1222delT	c.(1222-1224)tatfs	p.Y408fs	GRK6_ENST00000528793.1_Frame_Shift_Del_p.Y408fs|PRR7-AS1_ENST00000425316.3_RNA|GRK6_ENST00000393576.3_Frame_Shift_Del_p.Y374fs|GRK6_ENST00000355958.5_Frame_Shift_Del_p.Y408fs|GRK6_ENST00000507633.1_Frame_Shift_Del_p.Y408fs	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	408	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCCGAGGAGTATTCCGAGCG	0.627																																						dbGAP											0													62.0	72.0	68.0					5																	176863238		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.1222delT	5.37:g.176863238delT	ENSP00000347655:p.Tyr408fs		O60541|Q13652	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_GPCR_kinase,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom	p.Y408fs	ENST00000355472.5	37	c.1222	CCDS34303.1	5																																																																																			GRK6	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000198055		0.627	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRK6	HGNC	protein_coding	OTTHUMT00000373204.1	69	0.00	0	T	NM_002082		176863238	176863238	+1	no_errors	ENST00000528793	ensembl	human	known	69_37n	frame_shift_del	44	75.66	171	DEL	1.000	-
GSN	2934	genome.wustl.edu	37	9	124062266	124062267	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr9:124062266_124062267insG	ENST00000373818.4	+	1	196_197	c.127_128insG	c.(127-129)cggfs	p.R43fs	GSN_ENST00000449733.1_Intron|GSN_ENST00000412819.1_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000545652.1_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000373808.2_Intron	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	43					actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						gccccaggggcgggtgcccgag	0.723																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.130dupG	9.37:g.124062269_124062269dupG	ENSP00000362924:p.Arg43fs		A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Frame_Shift_Ins	INS	pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin	p.V44fs	ENST00000373818.4	37	c.127_128	CCDS6828.1	9																																																																																			GSN	-	NULL	ENSG00000148180		0.723	GSN-001	KNOWN	basic|CCDS	protein_coding	GSN	HGNC	protein_coding	OTTHUMT00000053861.1	57	0.00	0	-	NM_000177		124062266	124062267	+1	no_errors	ENST00000373818	ensembl	human	known	69_37n	frame_shift_ins	17	19.05	4	INS	0.061:0.048	G
INHBB	3625	genome.wustl.edu	37	2	121107231	121107232	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr2:121107231_121107232insT	ENST00000295228.3	+	2	1051_1052	c.1005_1006insT	c.(1006-1008)tgcfs	p.C336fs		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	336					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				GTGAGGGCAGCTGCCCAGCCTA	0.614																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"""Endogenous ligands"""	6067	protein-coding gene	gene with protein product		147390	"""inhibin, beta B (activin AB beta polypeptide)"""			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.1006dupT	2.37:g.121107232_121107232dupT	ENSP00000295228:p.Cys336fs		Q53T31|Q8N1D3	Frame_Shift_Ins	INS	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaB,prints_Inhibin_asu	p.C335fs	ENST00000295228.3	37	c.1005_1006	CCDS2132.1	2																																																																																			INHBB	-	pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu	ENSG00000163083		0.614	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBB	HGNC	protein_coding	OTTHUMT00000254234.1	24	0.00	0	-			121107231	121107232	+1	no_errors	ENST00000295228	ensembl	human	known	69_37n	frame_shift_ins	9	47.06	8	INS	1.000:1.000	T
INPPL1	3636	genome.wustl.edu	37	11	71939422	71939422	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr11:71939422C>T	ENST00000298229.2	+	3	481	c.277C>T	c.(277-279)Cag>Tag	p.Q93*	INPPL1_ENST00000541756.1_5'UTR|INPPL1_ENST00000538751.1_5'UTR	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	93	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GCGCCGCTTCCAGACCCTGGG	0.662																																						dbGAP											0													59.0	61.0	60.0					11																	71939422		2200	4293	6493	-	-	-	SO:0001587	stop_gained	0			Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.277C>T	11.37:g.71939422C>T	ENSP00000298229:p.Gln93*		B2RTX5|Q13577|Q13578	Nonsense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2	p.Q93*	ENST00000298229.2	37	c.277	CCDS8213.1	11	.	.	.	.	.	.	.	.	.	.	c	37	6.011624	0.97200	.	.	ENSG00000165458	ENST00000298229	.	.	.	4.3	4.3	0.51218	.	0.652449	0.15886	N	0.239807	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	9.5312	0.39196	0.2099:0.7901:0.0:0.0	.	.	.	.	X	93	.	ENSP00000298229:Q93X	Q	+	1	0	INPPL1	71617070	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.207000	0.51106	2.236000	0.73375	0.561000	0.74099	CAG	INPPL1	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	ENSG00000165458		0.662	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPPL1	HGNC	protein_coding	OTTHUMT00000396789.1	99	0.00	0	C	NM_001567		71939422	71939422	+1	no_errors	ENST00000298229	ensembl	human	known	69_37n	nonsense	51	22.73	15	SNP	1.000	T
INSIG2	51141	genome.wustl.edu	37	2	118864325	118864325	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr2:118864325G>A	ENST00000245787.4	+	4	588	c.382G>A	c.(382-384)Gat>Aat	p.D128N	INSIG2_ENST00000485520.1_3'UTR	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	128					cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						AGTGGATTTCGATAACAACAT	0.373																																						dbGAP											0													174.0	159.0	164.0					2																	118864325		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF527632	CCDS2122.1	2q14.1	2008-02-05			ENSG00000125629	ENSG00000125629			20452	protein-coding gene	gene with protein product		608660				12242332	Standard	NM_016133		Approved		uc002tlk.3	Q9Y5U4	OTTHUMG00000058518	ENST00000245787.4:c.382G>A	2.37:g.118864325G>A	ENSP00000245787:p.Asp128Asn		A8K5W8|Q8TBI8	Missense_Mutation	SNP	pfam_INSIG_fam	p.D128N	ENST00000245787.4	37	c.382	CCDS2122.1	2	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195385	0.58126	.	.	ENSG00000125629	ENST00000245787	.	.	.	5.23	5.23	0.72850	.	0.100848	0.64402	D	0.000003	T	0.55862	0.1947	N	0.22421	0.69	0.48830	D	0.99971	D;P	0.53619	0.961;0.486	P;B	0.51550	0.673;0.083	T	0.53158	-0.8478	9	0.33141	T	0.24	.	18.981	0.92755	0.0:0.0:1.0:0.0	.	20;128	B4DQ23;Q9Y5U4	.;INSI2_HUMAN	N	128	.	ENSP00000245787:D128N	D	+	1	0	INSIG2	118580795	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.202000	0.95026	2.717000	0.92951	0.585000	0.79938	GAT	INSIG2	-	pfam_INSIG_fam	ENSG00000125629		0.373	INSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSIG2	HGNC	protein_coding	OTTHUMT00000129624.1	247	0.00	0	G	NM_016133		118864325	118864325	+1	no_errors	ENST00000245787	ensembl	human	known	69_37n	missense	54	53.04	61	SNP	1.000	A
ITPR1	3708	genome.wustl.edu	37	3	4824339	4824340	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	GT	GT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr3:4824339_4824340delGT	ENST00000443694.2	+	47	6379_6380	c.6379_6380delGT	c.(6379-6381)gtgfs	p.V2127fs	ITPR1_ENST00000423119.2_Frame_Shift_Del_p.V2094fs|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Frame_Shift_Del_p.V2127fs|ITPR1_ENST00000456211.2_Frame_Shift_Del_p.V2079fs|ITPR1_ENST00000302640.8_Frame_Shift_Del_p.V2127fs|ITPR1_ENST00000357086.4_Frame_Shift_Del_p.V2094fs			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2142					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GCAAGGTGAAGTGGAATTTGAG	0.505																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.6379_6380delGT	3.37:g.4824339_4824340delGT	ENSP00000401671:p.Val2127fs		E7EPX7|E9PDE9|Q14660|Q99897	Frame_Shift_Del	DEL	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.V2127fs	ENST00000443694.2	37	c.6379_6380	CCDS54551.1	3																																																																																			ITPR1	-	NULL	ENSG00000150995		0.505	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	233	0.00	0	GT	NM_002222		4824339	4824340	+1	no_errors	ENST00000302640	ensembl	human	known	69_37n	frame_shift_del	209	50.23	215	DEL	1.000:0.999	-
KRT17	3872	genome.wustl.edu	37	17	39777034	39777035	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr17:39777034_39777035delAG	ENST00000311208.8	-	6	1124_1125	c.1057_1058delCT	c.(1057-1059)ctgfs	p.L353fs	JUP_ENST00000540235.1_Frame_Shift_Del_p.L512fs	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	353	Coil 2.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				AAGCTGGGCCAGCTGCTCCTCC	0.614																																					Pancreas(92;1242 2086 39193 50508)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.1057_1058delCT	17.37:g.39777034_39777035delAG	ENSP00000308452:p.Leu353fs		A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Frame_Shift_Del	DEL	pfam_F,pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo,pfscan_Armadillo,prints_Keratin_I,prints_Beta-catenin	p.L512fs	ENST00000311208.8	37	c.1535_1534	CCDS11402.1	17																																																																																			JUP	-	pfam_F,prints_Keratin_I	ENSG00000173801		0.614	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JUP	HGNC	protein_coding	OTTHUMT00000257460.1	48	0.00	0	AG	NM_000422		39777034	39777035	-1	no_errors	ENST00000540235	ensembl	human	known	69_37n	frame_shift_del	52	45.71	48	DEL	1.000:1.000	-
ICE1	23379	genome.wustl.edu	37	5	5461242	5461243	+	Frame_Shift_Del	DEL	AC	AC	-	rs368080527		TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr5:5461242_5461243delAC	ENST00000296564.7	+	13	2017_2018	c.1795_1796delAC	c.(1795-1797)actfs	p.T599fs		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		599					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAAAGAAGATACTCAAGGGTTC	0.406																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0																														ENST00000296564.7:c.1795_1796delAC	5.37:g.5461242_5461243delAC	ENSP00000296564:p.Thr599fs		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Frame_Shift_Del	DEL	superfamily_Vitellinogen_superhlx	p.T599fs	ENST00000296564.7	37	c.1795_1796	CCDS47187.1	5																																																																																			KIAA0947	-	NULL	ENSG00000164151		0.406	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	56	0.00	0	AC			5461242	5461243	+1	no_errors	ENST00000296564	ensembl	human	known	69_37n	frame_shift_del	22	46.51	20	DEL	0.000:0.000	-
KIAA1107	23285	genome.wustl.edu	37	1	92642589	92642589	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr1:92642589delA	ENST00000370378.4	+	5	623	c.525delA	c.(523-525)acafs	p.T175fs	KIAA1107_ENST00000409154.4_Frame_Shift_Del_p.T230fs	NM_015237.2	NP_056052.2	Q9UPP5	K1107_HUMAN	KIAA1107	230										breast(4)|central_nervous_system(1)|endometrium(3)|kidney(2)|prostate(1)|skin(3)	14						AAGATGGTACAAAAATAGCAT	0.323																																						dbGAP											0													68.0	55.0	59.0					1																	92642589		692	1591	2283	-	-	-	SO:0001589	frameshift_variant	0			AB029030	CCDS44172.1	1p22.1	2008-02-05			ENSG00000069712	ENSG00000069712			29192	protein-coding gene	gene with protein product						10470851	Standard	NM_015237		Approved		uc010otd.2	Q9UPP5	OTTHUMG00000010292	ENST00000370378.4:c.525delA	1.37:g.92642589delA	ENSP00000359404:p.Thr175fs		O14767|Q8N3X7	Frame_Shift_Del	DEL	NULL	p.I232fs	ENST00000370378.4	37	c.690	CCDS44172.1	1																																																																																			KIAA1107	-	NULL	ENSG00000069712		0.323	KIAA1107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1107	HGNC	protein_coding	OTTHUMT00000028375.3	70	0.00	0	A	XM_034086		92642589	92642589	+1	no_errors	ENST00000409154	ensembl	human	known	69_37n	frame_shift_del	40	23.08	12	DEL	0.992	-
KRIT1	889	genome.wustl.edu	37	7	91844024	91844024	+	Missense_Mutation	SNP	T	T	A			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr7:91844024T>A	ENST00000340022.2	-	15	2649	c.1631A>T	c.(1630-1632)tAt>tTt	p.Y544F	KRIT1_ENST00000412043.2_Missense_Mutation_p.Y544F|KRIT1_ENST00000394503.2_Missense_Mutation_p.Y496F|KRIT1_ENST00000394507.1_Missense_Mutation_p.Y544F|KRIT1_ENST00000394505.2_Missense_Mutation_p.Y544F	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	544	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGGAGCTGTATAAAAGCCCTT	0.338																																						dbGAP											0													72.0	74.0	73.0					7																	91844024		2203	4297	6500	-	-	-	SO:0001583	missense	0			AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.1631A>T	7.37:g.91844024T>A	ENSP00000344668:p.Tyr544Phe		A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Missense_Mutation	SNP	pfam_FERM_central,superfamily_Ankyrin_rpt-contain_dom,superfamily_FERM_central,smart_Ankyrin_rpt,smart_Band_41_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_FERM_domain	p.Y544F	ENST00000340022.2	37	c.1631	CCDS5624.1	7	.	.	.	.	.	.	.	.	.	.	T	14.44	2.535022	0.45073	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15	5.54	5.54	0.83059	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.132948	0.52532	D	0.000065	T	0.72590	0.3479	L	0.42632	1.34	0.45690	D	0.998607	B;B;B	0.18166	0.005;0.026;0.005	B;B;B	0.18561	0.007;0.022;0.007	T	0.68969	-0.5269	10	0.49607	T	0.09	-1.3816	15.9597	0.79918	0.0:0.0:0.0:1.0	.	544;496;544	A4D1F7;A6NNU0;O00522	.;.;KRIT1_HUMAN	F	544;544;544;544;496;544	ENSP00000378015:Y544F;ENSP00000344668:Y544F;ENSP00000410909:Y544F;ENSP00000378013:Y544F;ENSP00000378011:Y496F	ENSP00000344668:Y544F	Y	-	2	0	KRIT1	91681960	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	5.845000	0.69437	2.226000	0.72624	0.482000	0.46254	TAT	KRIT1	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000001631		0.338	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRIT1	HGNC	protein_coding	OTTHUMT00000253910.1	133	0.00	0	T			91844024	91844024	-1	no_errors	ENST00000340022	ensembl	human	known	69_37n	missense	50	25.37	17	SNP	1.000	A
KIAA1549	57670	genome.wustl.edu	37	7	138604164	138604164	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr7:138604164G>C	ENST00000422774.1	-	2	256	c.208C>G	c.(208-210)Cac>Gac	p.H70D	KIAA1549_ENST00000242365.4_Missense_Mutation_p.H20D|KIAA1549_ENST00000440172.1_Missense_Mutation_p.H70D			Q9HCM3	K1549_HUMAN	KIAA1549	70						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GAAAGGTTGTGCTGTTCCGGA	0.483			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	dbGAP		Dom	yes		7	7q34	57670	KIAA1549		O	0													69.0	68.0	68.0					7																	138604164		1957	4159	6116	-	-	-	SO:0001583	missense	0				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.208C>G	7.37:g.138604164G>C	ENSP00000416040:p.His70Asp		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	NULL	p.H70D	ENST00000422774.1	37	c.208	CCDS56513.1	7	.	.	.	.	.	.	.	.	.	.	g	20.2	3.941422	0.73557	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.23950	1.88;1.9;1.89	4.54	4.54	0.55810	.	0.871086	0.09603	N	0.779976	T	0.22781	0.0550	N	0.24115	0.695	0.37009	D	0.895663	B;B	0.32160	0.244;0.358	B;B	0.33620	0.08;0.167	T	0.20739	-1.0266	10	0.72032	D	0.01	.	14.6017	0.68445	0.0:0.0:1.0:0.0	.	70;70	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	D	70;20;70	ENSP00000406661:H70D;ENSP00000242365:H20D;ENSP00000416040:H70D	ENSP00000242365:H20D	H	-	1	0	KIAA1549	138254704	1.000000	0.71417	0.614000	0.29051	0.895000	0.52256	5.766000	0.68843	2.364000	0.80123	0.556000	0.70494	CAC	KIAA1549	-	NULL	ENSG00000122778		0.483	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	HGNC	protein_coding	OTTHUMT00000348092.1	129	0.00	0	G			138604164	138604164	-1	no_errors	ENST00000422774	ensembl	human	known	69_37n	missense	67	52.08	75	SNP	0.968	C
KRTAP2-2	728279	genome.wustl.edu	37	17	39211310	39211310	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr17:39211310G>A	ENST00000398477.1	-	1	172	c.154C>T	c.(154-156)Cgc>Tgc	p.R52C	KRTAP2-2_ENST00000542910.1_Missense_Mutation_p.R52C	NM_033032.2	NP_149021.2	Q9BYT5	KRA22_HUMAN	keratin associated protein 2-2	52	11 X 5 AA repeats of C-C-[CDPQRWG]- [APRS]-[CIPSTVD].					keratin filament (GO:0045095)											CAGATGGGGCGCGTGCAGCGG	0.751																																						dbGAP											0													1.0	1.0	1.0					17																	39211310		68	288	356	-	-	-	SO:0001583	missense	0			AJ302536	CCDS32648.1, CCDS54122.1	17q21.2	2013-06-25			ENSG00000214518	ENSG00000214518		"""Keratin associated proteins"""	18905	protein-coding gene	gene with protein product							Standard	NM_033032		Approved	KAP2.2	uc010cxj.3	Q9BYT5	OTTHUMG00000133593	ENST00000398477.1:c.154C>T	17.37:g.39211310G>A	ENSP00000381494:p.Arg52Cys		A8MTN3|A8MXM4	Missense_Mutation	SNP	pfam_Keratin-assoc	p.R52C	ENST00000398477.1	37	c.154	CCDS54122.1	17	.	.	.	.	.	.	.	.	.	.	.	22.9	4.351140	0.82132	.	.	ENSG00000214518	ENST00000398477;ENST00000542910	T;T	0.34859	1.34;1.34	5.22	4.23	0.50019	.	0.662303	0.12299	N	0.481326	T	0.65080	0.2657	M	0.89287	3.02	0.43890	D	0.996511	D	0.89917	1.0	D	0.85130	0.997	T	0.66384	-0.5937	10	0.87932	D	0	.	10.6756	0.45783	0.0:0.0:0.8016:0.1984	.	52	A8MTN3	KRA2X_HUMAN	C	52	ENSP00000381494:R52C;ENSP00000437407:R52C	ENSP00000381494:R52C	R	-	1	0	KRTAP2-2	36464836	0.984000	0.35163	0.990000	0.47175	0.997000	0.91878	1.955000	0.40372	1.390000	0.46547	0.485000	0.47835	CGC	KRTAP2-2	-	pfam_Keratin-assoc	ENSG00000214518		0.751	KRTAP2-2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KRTAP2-2	HGNC	protein_coding	OTTHUMT00000257697.1	8	0.00	0	G			39211310	39211310	-1	no_errors	ENST00000542910	ensembl	human	known	69_37n	missense	4	55.56	5	SNP	0.981	A
LAMA5	3911	genome.wustl.edu	37	20	60902623	60902624	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr20:60902623_60902624insG	ENST00000252999.3	-	37	4965_4966	c.4899_4900insC	c.(4897-4902)gccacgfs	p.T1634fs		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1634	Laminin EGF-like 16; first part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CAGCGCTCCGTGGCCCCAAAGC	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.4900dupC	20.37:g.60902625_60902625dupG	ENSP00000252999:p.Thr1634fs		Q8TDF8|Q8WZA7|Q9H1P1	Frame_Shift_Ins	INS	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.T1633fs	ENST00000252999.3	37	c.4900_4899	CCDS33502.1	20																																																																																			LAMA5	-	NULL	ENSG00000130702		0.629	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	15	0.00	0	-	NM_005560		60902623	60902624	-1	no_errors	ENST00000252999	ensembl	human	known	69_37n	frame_shift_ins	2	50.00	2	INS	1.000:1.000	G
LCE1E	353135	genome.wustl.edu	37	1	152759900	152759900	+	Missense_Mutation	SNP	C	C	G	rs138218733	byFrequency	TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr1:152759900C>G	ENST00000368770.3	+	2	178	c.125C>G	c.(124-126)tCc>tGc	p.S42C	LCE1E_ENST00000368771.1_Missense_Mutation_p.S42C	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	42	Cys-rich.				keratinization (GO:0031424)					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGTCTCTTCCTGCTGCAGT	0.662																																						dbGAP											0													70.0	75.0	73.0					1																	152759900		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC038391	CCDS1024.1	1q21.3	2008-02-05			ENSG00000186226	ENSG00000186226		"""Late cornified envelopes"""	29466	protein-coding gene	gene with protein product		612607				11698679	Standard	NM_178353		Approved	LEP5	uc001fan.3	Q5T753	OTTHUMG00000012405	ENST00000368770.3:c.125C>G	1.37:g.152759900C>G	ENSP00000357759:p.Ser42Cys		D3DV30	Missense_Mutation	SNP	NULL	p.S42C	ENST00000368770.3	37	c.125	CCDS1024.1	1	.	.	.	.	.	.	.	.	.	.	C	8.231	0.804675	0.16467	.	.	ENSG00000186226	ENST00000368771;ENST00000368770	T;T	0.06142	3.34;3.34	4.06	3.15	0.36227	.	0.000000	0.33382	N	0.004974	T	0.05868	0.0153	M	0.76328	2.33	0.24758	N	0.992947	D	0.53885	0.963	P	0.49140	0.601	T	0.10497	-1.0627	10	0.87932	D	0	.	8.1435	0.31097	0.0:0.8867:0.0:0.1133	.	42	Q5T753	LCE1E_HUMAN	C	42	ENSP00000357760:S42C;ENSP00000357759:S42C	ENSP00000357759:S42C	S	+	2	0	LCE1E	151026524	0.678000	0.27586	0.993000	0.49108	0.904000	0.53231	1.165000	0.31822	1.043000	0.40175	-0.299000	0.09455	TCC	LCE1E	-	NULL	ENSG00000186226		0.662	LCE1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE1E	HGNC	protein_coding	OTTHUMT00000034525.1	218	0.00	0	C	NM_178353		152759900	152759900	+1	no_errors	ENST00000368770	ensembl	human	known	69_37n	missense	151	25.98	53	SNP	0.998	G
LIF	3976	genome.wustl.edu	37	22	30639798	30639798	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr22:30639798C>T	ENST00000249075.3	-	3	606	c.451G>A	c.(451-453)Gtg>Atg	p.V151M	RP1-102K2.8_ENST00000593843.1_RNA|RP1-102K2.8_ENST00000608354.1_RNA|LIF_ENST00000403987.3_3'UTR	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor	151					blood vessel remodeling (GO:0001974)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|immune response (GO:0006955)|leukemia inhibitory factor signaling pathway (GO:0048861)|lung alveolus development (GO:0048286)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|multicellular organismal development (GO:0007275)|muscle organ morphogenesis (GO:0048644)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of hormone secretion (GO:0046888)|negative regulation of meiosis (GO:0045835)|neuron development (GO:0048666)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cell proliferation (GO:0008284)|positive regulation of histone H3-K27 acetylation (GO:1901676)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|spongiotrophoblast differentiation (GO:0060708)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|leukemia inhibitory factor receptor binding (GO:0005146)|receptor binding (GO:0005102)|RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001135)			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			CGGCACAGCACGTTGCTAAGG	0.612																																						dbGAP											0													202.0	172.0	182.0					22																	30639798		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13872.1, CCDS58799.1	22q12.2	2012-02-09	2012-02-09		ENSG00000128342	ENSG00000128342			6596	protein-coding gene	gene with protein product	"""differentiation inhibitory activity"", ""differentiation-inducing factor"", ""hepatocyte-stimulating factor III"", ""cholinergic differentiation factor"", ""human interleukin in DA cells"""	159540				1714745, 8058719	Standard	NM_002309		Approved	CDF, DIA, HILDA	uc003agz.3	P15018	OTTHUMG00000150910	ENST00000249075.3:c.451G>A	22.37:g.30639798C>T	ENSP00000249075:p.Val151Met		B2RCW7|B5MC23|Q52LZ2	Missense_Mutation	SNP	pfam_Leukemia_IF/oncostatin,superfamily_4_helix_cytokine-like_core,smart_Leukemia_IF/oncostatin,prints_Leukemia_IF	p.V151M	ENST00000249075.3	37	c.451	CCDS13872.1	22	.	.	.	.	.	.	.	.	.	.	C	19.76	3.886813	0.72410	.	.	ENSG00000128342	ENST00000249075	T	0.80304	-1.36	4.99	3.93	0.45458	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.095837	0.44688	D	0.000429	D	0.85999	0.5828	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86414	0.1750	10	0.66056	D	0.02	-23.106	10.622	0.45484	0.0:0.6769:0.3231:0.0	.	151	P15018	LIF_HUMAN	M	151	ENSP00000249075:V151M	ENSP00000249075:V151M	V	-	1	0	LIF	28969798	0.967000	0.33354	0.998000	0.56505	0.932000	0.56968	1.735000	0.38176	2.294000	0.77228	0.561000	0.74099	GTG	LIF	-	pfam_Leukemia_IF/oncostatin,superfamily_4_helix_cytokine-like_core,smart_Leukemia_IF/oncostatin,prints_Leukemia_IF	ENSG00000128342		0.612	LIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIF	HGNC	protein_coding	OTTHUMT00000320508.1	277	0.36	1	C	NM_002309		30639798	30639798	-1	no_errors	ENST00000249075	ensembl	human	known	69_37n	missense	97	38.36	61	SNP	1.000	T
LRRC36	55282	genome.wustl.edu	37	16	67381482	67381482	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr16:67381482A>T	ENST00000329956.6	+	4	495	c.476A>T	c.(475-477)gAg>gTg	p.E159V	LRRC36_ENST00000290940.7_De_novo_Start_InFrame|LRRC36_ENST00000563303.1_3'UTR|LRRC36_ENST00000563189.1_Missense_Mutation_p.E38V|LRRC36_ENST00000541146.1_De_novo_Start_InFrame|LRRC36_ENST00000435835.3_Missense_Mutation_p.E38V	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	159										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TTTCTTTTAGAGGTGGAAAAA	0.383																																						dbGAP											0													55.0	55.0	55.0					16																	67381482		2198	4300	6498	-	-	-	SO:0001583	missense	0			BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.476A>T	16.37:g.67381482A>T	ENSP00000329943:p.Glu159Val		A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	NULL	p.E159V	ENST00000329956.6	37	c.476	CCDS32467.1	16	.	.	.	.	.	.	.	.	.	.	A	23.2	4.389908	0.82902	.	.	ENSG00000159708	ENST00000329956;ENST00000435835	T;T	0.36157	3.07;1.27	5.41	5.41	0.78517	.	0.507291	0.22191	N	0.063371	T	0.36608	0.0973	L	0.42245	1.32	0.80722	D	1	P;P;P	0.48016	0.739;0.904;0.835	P;P;P	0.46917	0.531;0.531;0.474	T	0.06356	-1.0831	10	0.32370	T	0.25	-9.0573	12.131	0.53942	1.0:0.0:0.0:0.0	.	38;38;159	B7Z7B3;Q1X8D7-2;Q1X8D7	.;.;LRC36_HUMAN	V	159;38	ENSP00000329943:E159V;ENSP00000411122:E38V	ENSP00000329943:E159V	E	+	2	0	LRRC36	65938983	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.450000	0.60041	2.188000	0.69820	0.533000	0.62120	GAG	LRRC36	-	NULL	ENSG00000159708		0.383	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC36	HGNC	protein_coding	OTTHUMT00000421770.1	135	0.00	0	A	NM_018296		67381482	67381482	+1	no_errors	ENST00000329956	ensembl	human	known	69_37n	missense	79	27.93	31	SNP	1.000	T
MAP2K3	5606	genome.wustl.edu	37	17	21205521	21205521	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr17:21205521G>T	ENST00000342679.4	+	6	715	c.466G>T	c.(466-468)Gat>Tat	p.D156Y	MAP2K3_ENST00000361818.5_Missense_Mutation_p.D127Y|MAP2K3_ENST00000316920.6_Missense_Mutation_p.D127Y	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	156	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GAAGGTGCTGGATAAAAACAT	0.577																																						dbGAP											0													133.0	107.0	116.0					17																	21205521		2203	4300	6503	-	-	-	SO:0001583	missense	0			L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.466G>T	17.37:g.21205521G>T	ENSP00000345083:p.Asp156Tyr		B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D156Y	ENST00000342679.4	37	c.466	CCDS11217.1	17	.	.	.	.	.	.	.	.	.	.	G	15.17	2.752961	0.49362	.	.	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000316920	T;T	0.73897	-0.79;-0.77	5.17	5.17	0.71159	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.329188	0.26297	N	0.025187	T	0.73690	0.3619	L	0.35249	1.045	0.53005	D	0.999969	P	0.34934	0.476	B	0.43360	0.417	T	0.76490	-0.2940	10	0.87932	D	0	-21.0652	18.7039	0.91630	0.0:0.0:1.0:0.0	.	156	P46734	MP2K3_HUMAN	Y	156;127;127;160	ENSP00000345083:D156Y;ENSP00000355081:D127Y	ENSP00000319139:D160Y	D	+	1	0	MAP2K3	21146114	1.000000	0.71417	0.846000	0.33378	0.951000	0.60555	9.741000	0.98843	2.396000	0.81511	0.655000	0.94253	GAT	MAP2K3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000034152		0.577	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K3	HGNC	protein_coding	OTTHUMT00000259374.2	90	0.00	0	G	NM_145109		21205521	21205521	+1	no_errors	ENST00000342679	ensembl	human	known	69_37n	missense	32	20.00	8	SNP	1.000	T
MBLAC1	255374	genome.wustl.edu	37	7	99725323	99725324	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr7:99725323_99725324insG	ENST00000398075.2	+	2	704_705	c.305_306insG	c.(304-309)gtggccfs	p.A103fs	RP11-506M12.1_ENST00000494221.1_RNA	NM_203397.1	NP_981942.1	A4D2B0	MBLC1_HUMAN	metallo-beta-lactamase domain containing 1	103							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	7						GGGCAGGGCGTGGCCCCGGGAG	0.752																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC031288	CCDS43620.1	7q22	2014-02-12	2009-04-08		ENSG00000214309	ENSG00000214309			22180	protein-coding gene	gene with protein product							Standard	XM_005250250		Approved	MGC49416	uc003utp.3	A4D2B0	OTTHUMG00000154846	ENST00000398075.2:c.307dupG	7.37:g.99725325_99725325dupG	ENSP00000381150:p.Ala103fs		Q8N5X8	Frame_Shift_Ins	INS	pfam_Beta-lactamas-like,smart_Beta-lactamas-like	p.A103fs	ENST00000398075.2	37	c.305_306	CCDS43620.1	7																																																																																			MBLAC1	-	pfam_Beta-lactamas-like,smart_Beta-lactamas-like	ENSG00000214309		0.752	MBLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBLAC1	HGNC	protein_coding	OTTHUMT00000337353.1	24	0.00	0	-	NM_203397		99725323	99725324	+1	no_errors	ENST00000398075	ensembl	human	known	69_37n	frame_shift_ins	7	22.22	2	INS	1.000:1.000	G
MPV17L	255027	genome.wustl.edu	37	16	15501863	15501863	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr16:15501863C>T	ENST00000396385.3	+	4	604	c.485C>T	c.(484-486)aCc>aTc	p.T162I	RP11-1021N1.1_ENST00000568222.1_Intron|MPV17L_ENST00000287594.7_Silent_p.H138H	NM_001128423.1	NP_001121895.1	Q2QL34	MP17L_HUMAN	MPV17 mitochondrial membrane protein-like	162					negative regulation of hydrogen peroxide biosynthetic process (GO:0010730)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|reactive oxygen species metabolic process (GO:0072593)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	receptor binding (GO:0005102)			kidney(2)|large_intestine(1)|skin(1)	4						CTCTGGGCCACCTTCATCTGT	0.502																																						dbGAP											0													64.0	56.0	58.0					16																	15501863		2197	4300	6497	-	-	-	SO:0001583	missense	0			DQ004255	CCDS10560.1, CCDS45421.1	16p13.11	2009-04-06			ENSG00000156968	ENSG00000156968			26827	protein-coding gene	gene with protein product						16631601	Standard	NM_001128423		Approved	FLJ39599, MLPH1, MLPH2, MPV17L1	uc002ddn.2	Q2QL34	OTTHUMG00000129882	ENST00000396385.3:c.485C>T	16.37:g.15501863C>T	ENSP00000379669:p.Thr162Ile		B4DDY1|Q6P7T6|Q8N8E9	Missense_Mutation	SNP	pfam_Mpv17_PMP22	p.T162I	ENST00000396385.3	37	c.485	CCDS45421.1	16	.	.	.	.	.	.	.	.	.	.	.	5.612	0.297641	0.10622	.	.	ENSG00000156968	ENST00000396385	D	0.86164	-2.08	5.29	2.28	0.28536	.	0.166361	0.36815	U	0.002398	T	0.78735	0.4330	.	.	.	0.34270	D	0.680899	B	0.06786	0.001	B	0.11329	0.006	T	0.74542	-0.3631	9	0.27785	T	0.31	-14.0094	10.91	0.47103	0.0:0.8286:0.0:0.1713	.	162	Q2QL34	MP17L_HUMAN	I	162	ENSP00000379669:T162I	ENSP00000379669:T162I	T	+	2	0	MPV17L	15409364	0.959000	0.32827	0.994000	0.49952	0.044000	0.14063	0.500000	0.22562	0.624000	0.30286	-1.338000	0.01255	ACC	MPV17L	-	pfam_Mpv17_PMP22	ENSG00000156968		0.502	MPV17L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MPV17L	HGNC	protein_coding	OTTHUMT00000422450.1	143	0.00	0	C	NM_173803		15501863	15501863	+1	no_errors	ENST00000396385	ensembl	human	known	69_37n	missense	123	18.00	27	SNP	1.000	T
MTM1	4534	genome.wustl.edu	37	X	149814336	149814336	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chrX:149814336G>A	ENST00000370396.2	+	9	913	c.859G>A	c.(859-861)Gcc>Acc	p.A287T	MTM1_ENST00000542741.1_Missense_Mutation_p.A192T|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.A172T|MTM1_ENST00000413012.2_Missense_Mutation_p.A250T	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	287	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					AAATGCAGTGGCCAACAAGGT	0.378																																						dbGAP											0													95.0	81.0	86.0					X																	149814336		2203	4300	6503	-	-	-	SO:0001583	missense	0			U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.859G>A	X.37:g.149814336G>A	ENSP00000359423:p.Ala287Thr		A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	p.A287T	ENST00000370396.2	37	c.859	CCDS14694.1	X	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041720	0.75732	.	.	ENSG00000171100	ENST00000370396;ENST00000542741;ENST00000543350;ENST00000413012	D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78	5.78	5.78	0.91487	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.049572	0.85682	D	0.000000	D	0.93400	0.7895	M	0.64676	1.99	0.80722	D	1	P;B	0.41214	0.742;0.092	P;B	0.53689	0.732;0.191	D	0.91797	0.5448	10	0.33141	T	0.24	.	19.0341	0.92970	0.0:0.0:1.0:0.0	.	250;287	B7Z491;Q13496	.;MTM1_HUMAN	T	287;192;172;250	ENSP00000359423:A287T;ENSP00000444015:A192T;ENSP00000439784:A172T;ENSP00000389157:A250T	ENSP00000359423:A287T	A	+	1	0	MTM1	149564994	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.822000	0.99363	2.444000	0.82710	0.594000	0.82650	GCC	MTM1	-	pfam_Myotub-related	ENSG00000171100		0.378	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MTM1	HGNC	protein_coding	OTTHUMT00000060847.3	150	0.66	1	G	NM_000252		149814336	149814336	+1	no_errors	ENST00000370396	ensembl	human	known	69_37n	missense	98	10.81	12	SNP	1.000	A
MUC2	4583	genome.wustl.edu	37	11	1092499	1092499	+	Missense_Mutation	SNP	C	C	T	rs72842456		TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr11:1092499C>T	ENST00000441003.2	+	30	4345	c.4318C>T	c.(4318-4320)Cct>Tct	p.P1440S	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Missense_Mutation_p.P1441S	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4220	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	cacccccagccctccaataac	0.647																																						dbGAP											0													132.0	192.0	172.0					11																	1092499		1549	3134	4683	-	-	-	SO:0001583	missense	0			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4318C>T	11.37:g.1092499C>T	ENSP00000415183:p.Pro1440Ser		Q14878	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.P1440S	ENST00000441003.2	37	c.4318		11	.	.	.	.	.	.	.	.	.	.	c	2.181	-0.387480	0.04932	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.13307	2.65;2.6	2.3	-4.6	0.03390	.	0.395981	0.16135	U	0.228009	T	0.05868	0.0153	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.39901	-0.9591	8	0.17369	T	0.5	.	8.3589	0.32346	0.6834:0.1973:0.1193:0.0	.	1440	E7EUV1	.	S	1440;1441	ENSP00000415183:P1440S;ENSP00000351956:P1441S	ENSP00000351956:P1441S	P	+	1	0	MUC2	1082499	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.405000	0.00482	-0.560000	0.06102	0.000000	0.15137	CCT	MUC2	-	NULL	ENSG00000198788		0.647	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	157	0.63	1	C	NM_002457		1092499	1092499	+1	no_errors	ENST00000441003	ensembl	human	known	69_37n	missense	104	14.75	18	SNP	0.000	T
MYOF	26509	genome.wustl.edu	37	10	95169434	95169435	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr10:95169434_95169435insC	ENST00000359263.4	-	6	494_495	c.495_496insG	c.(493-498)gggcccfs	p.P166fs	MYOF_ENST00000371502.4_Frame_Shift_Ins_p.P166fs|MYOF_ENST00000371489.1_Frame_Shift_Ins_p.P166fs|MYOF_ENST00000371501.4_Frame_Shift_Ins_p.P166fs|MYOF_ENST00000358334.5_Frame_Shift_Ins_p.P166fs	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	166					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GGCCCCTTGGGCCCAGGGCCCC	0.535																																						dbGAP											0									,	8,3638		0,8,1815					,	4.4	0.5			236	25,7833		1,23,3905	no	frameshift,frameshift	MYOF	NM_133337.2,NM_013451.3	,	1,31,5720	A1A1,A1R,RR		0.3181,0.2194,0.2869	,	,		33,11471				-	-	-	SO:0001589	frameshift_variant	0			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.496dupG	10.37:g.95169437_95169437dupC	ENSP00000352208:p.Pro166fs		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Frame_Shift_Ins	INS	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.P165fs	ENST00000359263.4	37	c.496_495	CCDS41551.1	10																																																																																			MYOF	-	NULL	ENSG00000138119		0.535	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	HGNC	protein_coding	OTTHUMT00000049423.2	131	0.00	0	-	NM_013451		95169434	95169435	-1	no_errors	ENST00000359263	ensembl	human	known	69_37n	frame_shift_ins	39	17.02	8	INS	0.120:0.025	C
NBPF22P	285622	genome.wustl.edu	37	5	85583607	85583607	+	RNA	SNP	T	T	C			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr5:85583607T>C	ENST00000590707.1	+	0	873					NR_003719.2				neuroblastoma breakpoint family, member 22, pseudogene																		ACCAGCCTTATAGCAGCACCT	0.532																																						dbGAP											0																																										-	-	-			0			BC050328		5q14.3	2013-01-17	2011-04-15		ENSG00000205449	ENSG00000205449		"""neuroblastoma breakpoint family"""	28731	pseudogene	pseudogene						16079250	Standard	NR_003719		Approved	MGC48637	uc003kiq.3		OTTHUMG00000162585		5.37:g.85583607T>C				RNA	SNP	-	NULL	ENST00000590707.1	37	NULL		5																																																																																			NBPF22P	-	-	ENSG00000205449		0.532	NBPF22P-004	KNOWN	basic	processed_transcript	NBPF22P	HGNC	pseudogene	OTTHUMT00000453100.1	299	0.00	0	T	XM_208333		85583607	85583607	+1	no_errors	ENST00000590707	ensembl	human	known	69_37n	rna	94	21.01	25	SNP	0.000	C
NCMAP	400746	genome.wustl.edu	37	1	24921959	24921959	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr1:24921959T>G	ENST00000374392.2	+	2	104	c.38T>G	c.(37-39)tTc>tGc	p.F13C	NCMAP_ENST00000486262.1_3'UTR	NM_001010980.4	NP_001010980.1	Q5T1S8	NCMAP_HUMAN	noncompact myelin associated protein	13					peripheral nervous system myelin formation (GO:0032290)|positive regulation of myelination (GO:0031643)	integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|Schmidt-Lanterman incisure (GO:0043220)	structural constituent of myelin sheath (GO:0019911)										ACCACCTTCTTCTCACTGAAC	0.448																																						dbGAP											0													69.0	64.0	66.0					1																	24921959		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK124519	CCDS30632.1	1p36.11	2012-07-31	2012-07-31	2012-07-31	ENSG00000184454	ENSG00000184454			29332	protein-coding gene	gene with protein product	"""myelin protein of 11 kDa"""		"""chromosome 1 open reading frame 130"""	C1orf130		18650334	Standard	NM_001010980		Approved	FLJ42528, MP11	uc001bjk.2	Q5T1S8	OTTHUMG00000003317	ENST00000374392.2:c.38T>G	1.37:g.24921959T>G	ENSP00000363513:p.Phe13Cys		A0PK04|B2RV34	Missense_Mutation	SNP	NULL	p.F13C	ENST00000374392.2	37	c.38	CCDS30632.1	1	.	.	.	.	.	.	.	.	.	.	T	18.62	3.664109	0.67700	.	.	ENSG00000184454	ENST00000374392	.	.	.	5.51	5.51	0.81932	.	0.538057	0.20710	N	0.087113	T	0.44477	0.1295	L	0.27053	0.805	0.31283	N	0.690336	D	0.63046	0.992	P	0.55999	0.789	T	0.51710	-0.8671	9	0.54805	T	0.06	-8.102	12.2804	0.54760	0.0:0.0:0.0:1.0	.	13	Q5T1S8	CA130_HUMAN	C	13	.	ENSP00000363513:F13C	F	+	2	0	C1orf130	24794546	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	1.750000	0.38329	2.212000	0.71576	0.460000	0.39030	TTC	NCMAP	-	NULL	ENSG00000184454		0.448	NCMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCMAP	HGNC	protein_coding	OTTHUMT00000009288.2	67	0.00	0	T	NM_001010980		24921959	24921959	+1	no_errors	ENST00000374392	ensembl	human	known	69_37n	missense	35	22.22	10	SNP	1.000	G
NFASC	23114	genome.wustl.edu	37	1	204971877	204971878	+	Splice_Site	DEL	GT	GT	-			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	GT	GT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr1:204971877_204971878delGT	ENST00000401399.1	+	26	3488		c.e26+1		NFASC_ENST00000539706.1_Intron|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000367170.4_Splice_Site|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000495396.1_Splice_Site|NFASC_ENST00000367172.4_Splice_Site|NFASC_ENST00000339876.6_Splice_Site|NFASC_ENST00000367171.4_Splice_Site|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000338586.6_Splice_Site|NFASC_ENST00000367169.4_Intron			O94856	NFASC_HUMAN	neurofascin						axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACCAGTACAGGTGAGAGGGGAC	0.554																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.3289+1GT>-	1.37:g.204971877_204971878delGT			B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Splice_Site	DEL	-	e27+1	ENST00000401399.1	37	c.3610+1_3610+1	CCDS53460.1	1																																																																																			NFASC	-	-	ENSG00000163531		0.554	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131237.1	56	0.00	0	GT	NM_001005388	Intron	204971877	204971878	+1	no_errors	ENST00000367172	ensembl	human	known	69_37n	splice_site_del	79	53.25	90	DEL	1.000:1.000	-
NFE2L3	9603	genome.wustl.edu	37	7	26224471	26224471	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr7:26224471G>A	ENST00000056233.3	+	4	1412	c.1153G>A	c.(1153-1155)Gac>Aac	p.D385N		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	385					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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 transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GTATGACCTTGACATAAATAT	0.378																																						dbGAP											0													82.0	86.0	84.0					7																	26224471		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1153G>A	7.37:g.26224471G>A	ENSP00000056233:p.Asp385Asn		Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_Maf,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.D385N	ENST00000056233.3	37	c.1153	CCDS5396.1	7	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660547	0.29515	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	T	0.40756	1.02	5.12	4.24	0.50183	.	0.141913	0.64402	N	0.000009	T	0.36524	0.0970	L	0.53780	1.695	0.46185	D	0.998913	P	0.38110	0.618	B	0.32211	0.142	T	0.26018	-1.0115	10	0.44086	T	0.13	-17.8635	13.9444	0.64075	0.0739:0.0:0.9261:0.0	.	385	Q9Y4A8	NF2L3_HUMAN	N	385;91	ENSP00000056233:D385N	ENSP00000056233:D385N	D	+	1	0	NFE2L3	26190996	0.999000	0.42202	0.714000	0.30535	0.185000	0.23345	2.468000	0.45102	1.293000	0.44690	0.591000	0.81541	GAC	NFE2L3	-	NULL	ENSG00000050344		0.378	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L3	HGNC	protein_coding	OTTHUMT00000214088.1	111	0.00	0	G			26224471	26224471	+1	no_errors	ENST00000056233	ensembl	human	known	69_37n	missense	47	12.96	7	SNP	0.991	A
NLGN4X	57502	genome.wustl.edu	37	X	5811009	5811009	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chrX:5811009G>A	ENST00000381095.3	-	6	2927	c.2300C>T	c.(2299-2301)tCg>tTg	p.S767L	NLGN4X_ENST00000381092.1_Missense_Mutation_p.S767L|NLGN4X_ENST00000538097.1_Missense_Mutation_p.S767L|NLGN4X_ENST00000275857.6_Missense_Mutation_p.S767L|NLGN4X_ENST00000381093.2_Missense_Mutation_p.S787L	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	767					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GTCATCTGGCGACCGGCGCAG	0.557																																						dbGAP											0													253.0	207.0	223.0					X																	5811009		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.2300C>T	X.37:g.5811009G>A	ENSP00000370485:p.Ser767Leu		Q6UX10|Q9ULG0	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.S787L	ENST00000381095.3	37	c.2360	CCDS14126.1	X	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417316	0.42918	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18	3.82	3.82	0.43975	.	0.264203	0.20297	N	0.095112	T	0.40423	0.1116	M	0.73962	2.25	0.58432	D	0.999994	D;D;D	0.69078	0.99;0.972;0.997	P;B;P	0.56700	0.592;0.368;0.804	T	0.46456	-0.9190	10	0.87932	D	0	.	14.222	0.65833	0.0:0.0:1.0:0.0	.	824;767;787	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	L	767;787;767;767;767	ENSP00000370485:S767L;ENSP00000370483:S787L;ENSP00000275857:S767L;ENSP00000370482:S767L;ENSP00000439203:S767L	ENSP00000275857:S767L	S	-	2	0	NLGN4X	5821009	1.000000	0.71417	0.017000	0.16124	0.243000	0.25628	8.436000	0.90300	1.508000	0.48769	0.513000	0.50165	TCG	NLGN4X	-	NULL	ENSG00000146938		0.557	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	HGNC	protein_coding	OTTHUMT00000055673.1	397	0.00	0	G	NM_020742		5811009	5811009	-1	no_errors	ENST00000381093	ensembl	human	known	69_37n	missense	105	55.83	134	SNP	1.000	A
NLRP4	147945	genome.wustl.edu	37	19	56370309	56370309	+	Missense_Mutation	SNP	C	C	T	rs200576295		TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr19:56370309C>T	ENST00000301295.6	+	3	1972	c.1550C>T	c.(1549-1551)gCg>gTg	p.A517V	NLRP4_ENST00000346986.5_Missense_Mutation_p.A517V|NLRP4_ENST00000587891.1_Missense_Mutation_p.A442V	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	517					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AAACTGGATGCGTTTTTTGGC	0.433																																						dbGAP											0													82.0	87.0	85.0					19																	56370309		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1550C>T	19.37:g.56370309C>T	ENSP00000301295:p.Ala517Val		Q86W87|Q96AY6	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.A517V	ENST00000301295.6	37	c.1550	CCDS12936.1	19	.	.	.	.	.	.	.	.	.	.	C	5.819	0.335401	0.11013	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.84223	-1.82;-1.82	4.24	-0.966	0.10320	.	.	.	.	.	T	0.72630	0.3484	L	0.36672	1.1	0.09310	N	1	P;P;P	0.52316	0.867;0.952;0.92	B;B;B	0.43194	0.248;0.411;0.217	T	0.63175	-0.6696	9	0.24483	T	0.36	.	1.3525	0.02176	0.1722:0.4596:0.1679:0.2003	.	517;442;517	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	V	517	ENSP00000301295:A517V;ENSP00000344787:A517V	ENSP00000301295:A517V	A	+	2	0	NLRP4	61062121	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.092000	0.15066	0.148000	0.19059	-0.182000	0.12963	GCG	NLRP4	-	NULL	ENSG00000160505		0.433	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP4	HGNC	protein_coding	OTTHUMT00000457367.2	141	0.00	0	C	NM_134444		56370309	56370309	+1	no_errors	ENST00000301295	ensembl	human	known	69_37n	missense	82	27.43	31	SNP	0.000	T
NPC1L1	29881	genome.wustl.edu	37	7	44578657	44578657	+	Silent	SNP	G	G	A			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr7:44578657G>A	ENST00000289547.4	-	2	1394	c.1339C>T	c.(1339-1341)Ctg>Ttg	p.L447L	NPC1L1_ENST00000546276.1_Silent_p.L447L|NPC1L1_ENST00000423141.1_Silent_p.L447L|NPC1L1_ENST00000381160.3_Silent_p.L447L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	447					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CTCTCCTGCAGCTCTAGCAGC	0.607																																						dbGAP											0													51.0	54.0	53.0					7																	44578657		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1339C>T	7.37:g.44578657G>A			A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	pfam_Patched,pfscan_SSD	p.L447	ENST00000289547.4	37	c.1339	CCDS5491.1	7																																																																																			NPC1L1	-	NULL	ENSG00000015520		0.607	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	NPC1L1	HGNC	protein_coding	OTTHUMT00000251256.1	90	0.00	0	G	NM_013389		44578657	44578657	-1	no_errors	ENST00000289547	ensembl	human	known	69_37n	silent	46	11.32	6	SNP	1.000	A
OR1J2	26740	genome.wustl.edu	37	9	125273997	125273997	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr9:125273997G>T	ENST00000335302.5	+	1	917	c.917G>T	c.(916-918)aGt>aTt	p.S306I		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						AAACTCTTCAGTAGAGCAACA	0.388																																						dbGAP											0													52.0	55.0	54.0					9																	125273997		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"""GPCR / Class A : Olfactory receptors"""	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.917G>T	9.37:g.125273997G>T	ENSP00000335575:p.Ser306Ile		A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S306I	ENST00000335302.5	37	c.917	CCDS35121.1	9	.	.	.	.	.	.	.	.	.	.	G	10.11	1.260123	0.23051	.	.	ENSG00000197233	ENST00000335302	T	0.38077	1.16	5.14	0.147	0.14838	.	1.195840	0.06301	U	0.700844	T	0.25680	0.0625	L	0.31120	0.905	0.09310	N	1	B	0.33477	0.413	B	0.35813	0.211	T	0.27400	-1.0075	10	0.21014	T	0.42	.	5.9713	0.19353	0.2949:0.1282:0.5769:0.0	.	306	Q8NGS2	OR1J2_HUMAN	I	306	ENSP00000335575:S306I	ENSP00000335575:S306I	S	+	2	0	OR1J2	124313818	0.004000	0.15560	0.000000	0.03702	0.332000	0.28634	-0.046000	0.11983	-0.108000	0.12066	-0.165000	0.13383	AGT	OR1J2	-	NULL	ENSG00000197233		0.388	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1J2	HGNC	protein_coding	OTTHUMT00000053932.1	118	0.00	0	G			125273997	125273997	+1	no_errors	ENST00000335302	ensembl	human	known	69_37n	missense	51	36.25	29	SNP	0.000	T
OR2G2	81470	genome.wustl.edu	37	1	247752246	247752246	+	Silent	SNP	C	C	A			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr1:247752246C>A	ENST00000320065.1	+	1	585	c.585C>A	c.(583-585)acC>acA	p.T195T	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTGTGGGCACCACGTTTAACG	0.537																																						dbGAP											0													163.0	167.0	166.0					1																	247752246		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.585C>A	1.37:g.247752246C>A			Q5JQT2|Q6IEZ0	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T195	ENST00000320065.1	37	c.585	CCDS31092.1	1																																																																																			OR2G2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000177489		0.537	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G2	HGNC	protein_coding	OTTHUMT00000097623.1	285	0.00	0	C			247752246	247752246	+1	no_errors	ENST00000320065	ensembl	human	known	69_37n	silent	237	30.21	103	SNP	0.004	A
OTOF	9381	genome.wustl.edu	37	2	26700694	26700695	+	Intron	DEL	AT	AT	-	rs76130130	byFrequency	TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	AT	AT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr2:26700694_26700695delAT	ENST00000272371.2	-	19	2341				OTOF_ENST00000339598.3_Intron|OTOF_ENST00000402415.3_Frame_Shift_Del_p.I23fs|OTOF_ENST00000338581.6_Intron|OTOF_ENST00000403946.3_Intron	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin						membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCCTGTTGATCAGGGGAGTG	0.564																																					GBM(102;732 1451 20652 24062 31372)	dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2215-77AT>-	2.37:g.26700694_26700695delAT			B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Frame_Shift_Del	DEL	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom	p.I23fs	ENST00000272371.2	37	c.68_67	CCDS1725.1	2																																																																																			OTOF	-	NULL	ENSG00000115155		0.564	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3	16	0.00	0	AT			26700694	26700695	-1	no_errors	ENST00000402415	ensembl	human	known	69_37n	frame_shift_del	8	33.33	4	DEL	0.001:0.024	-
PAK4	10298	genome.wustl.edu	37	19	39664407	39664408	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr19:39664407_39664408insC	ENST00000593690.1	+	6	1282_1283	c.855_856insC	c.(856-858)cccfs	p.P286fs	PAK4_ENST00000599470.1_Frame_Shift_Ins_p.P133fs|PAK4_ENST00000435673.2_Frame_Shift_Ins_p.P286fs|PAK4_ENST00000599386.1_Frame_Shift_Ins_p.P133fs|PAK4_ENST00000321944.4_Frame_Shift_Ins_p.P196fs|PAK4_ENST00000360442.3_Frame_Shift_Ins_p.P286fs|PAK4_ENST00000358301.3_Frame_Shift_Ins_p.P286fs	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	286	Linker.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CTGTTCCTGGGCCCCCTGGCCC	0.743																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"""p21(CDKN1A)-activated kinase 4"""			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.860dupC	19.37:g.39664412_39664412dupC	ENSP00000469413:p.Pro286fs		B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.G287fs	ENST00000593690.1	37	c.855_856	CCDS12528.1	19																																																																																			PAK4	-	NULL	ENSG00000130669		0.743	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK4	HGNC	protein_coding	OTTHUMT00000463823.1	10	0.00	0	-			39664407	39664408	+1	no_errors	ENST00000358301	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.016:0.162	C
PCDH10	57575	genome.wustl.edu	37	4	134071574	134071574	+	Silent	SNP	G	G	A			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr4:134071574G>A	ENST00000264360.5	+	1	1105	c.279G>A	c.(277-279)ctG>ctA	p.L93L	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	93	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCTGTGTCCTGCACCTGGAGG	0.562																																						dbGAP											0													54.0	61.0	59.0					4																	134071574		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.279G>A	4.37:g.134071574G>A			Q4W5F6|Q96SF0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L93	ENST00000264360.5	37	c.279	CCDS34063.1	4																																																																																			PCDH10	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000138650		0.562	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	53	0.00	0	G	NM_032961		134071574	134071574	+1	no_errors	ENST00000264360	ensembl	human	known	69_37n	silent	24	14.29	4	SNP	1.000	A
PCDHA9	9752	genome.wustl.edu	37	5	140230065	140230065	+	Missense_Mutation	SNP	C	C	T	rs572249977		TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr5:140230065C>T	ENST00000532602.1	+	1	3018	c.1985C>T	c.(1984-1986)aCg>aTg	p.T662M	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.T662M|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	662	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T662M(4)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGACGGCCACGGCCACTGTG	0.692													.|||	1	0.000199681	0.0	0.0	5008	,	,		14999	0.001		0.0	False		,,,				2504	0.0				Melanoma(55;1800 1972 14909)	dbGAP											4	Substitution - Missense(4)	kidney(2)|endometrium(2)											44.0	47.0	46.0					5																	140230065		2197	4266	6463	-	-	-	SO:0001583	missense	0			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1985C>T	5.37:g.140230065C>T	ENSP00000436042:p.Thr662Met		O15053|Q2M3S5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T662M	ENST00000532602.1	37	c.1985	CCDS54920.1	5	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827628	0.50845	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.57107	0.42;0.42	4.13	4.13	0.48395	Cadherin (4);Cadherin-like (1);	0.000000	0.32488	U	0.006025	T	0.75451	0.3851	M	0.91818	3.245	0.28839	N	0.896706	D;D	0.89917	0.997;1.0	D;D	0.87578	0.921;0.998	T	0.72527	-0.4266	10	0.87932	D	0	.	10.4648	0.44600	0.0:0.9083:0.0:0.0917	.	662;662	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	M	662	ENSP00000436042:T662M;ENSP00000367362:T662M	ENSP00000367362:T662M	T	+	2	0	PCDHA9	140210249	0.966000	0.33281	0.910000	0.35882	0.070000	0.16714	5.308000	0.65768	1.982000	0.57802	0.313000	0.20887	ACG	PCDHA9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204961		0.692	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	HGNC	protein_coding	OTTHUMT00000372896.2	54	0.00	0	C	NM_031857		140230065	140230065	+1	no_errors	ENST00000532602	ensembl	human	known	69_37n	missense	25	21.21	7	SNP	1.000	T
PCNT	5116	genome.wustl.edu	37	21	47810717	47810717	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr21:47810717G>C	ENST00000359568.5	+	20	4080	c.3973G>C	c.(3973-3975)Gag>Cag	p.E1325Q	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1325					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGCAAAGGCAGAGCTGGCGCT	0.572																																						dbGAP											0													27.0	26.0	27.0					21																	47810717		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.3973G>C	21.37:g.47810717G>C	ENSP00000352572:p.Glu1325Gln		O43152|Q7Z7C9	Missense_Mutation	SNP	pfam_PACT_domain	p.E1325Q	ENST00000359568.5	37	c.3973	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	G	2.279	-0.365265	0.05103	.	.	ENSG00000160299	ENST00000359568	T	0.57107	0.42	5.26	-8.98	0.00754	.	1.467970	0.04894	N	0.450117	T	0.14657	0.0354	N	0.01297	-0.9	0.09310	N	1	B;B	0.23442	0.002;0.085	B;B	0.14023	0.002;0.01	T	0.17776	-1.0358	10	0.05833	T	0.94	.	5.4006	0.16293	0.3877:0.4249:0.1107:0.0767	.	1207;1325	O95613-2;O95613	.;PCNT_HUMAN	Q	1325	ENSP00000352572:E1325Q	ENSP00000352572:E1325Q	E	+	1	0	PCNT	46635145	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.382000	0.07408	-1.337000	0.02236	0.561000	0.74099	GAG	PCNT	-	NULL	ENSG00000160299		0.572	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	74	0.00	0	G	NM_006031		47810717	47810717	+1	no_errors	ENST00000359568	ensembl	human	known	69_37n	missense	41	26.79	15	SNP	0.000	C
PDXDC2P	283970	genome.wustl.edu	37	16	70057541	70057541	+	RNA	SNP	A	A	T			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr16:70057541A>T	ENST00000531894.1	-	0	1024					NR_003610.1		Q6P474	PDXD2_HUMAN	pyridoxal-dependent decarboxylase domain containing 2, pseudogene						carboxylic acid metabolic process (GO:0019752)		carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)										ACCAGCACTGATGAGGAGACA	0.363																																						dbGAP											0																																										-	-	-			0					16q22.1	2014-03-20	2010-09-02	2010-09-02	ENSG00000196696	ENSG00000196696			27559	pseudogene	pseudogene			"""pyridoxal-dependent decarboxylase domain containing 2"""	PDXDC2			Standard	NR_003610		Approved	DKFZp761H1120	uc010vlq.1	Q6P474	OTTHUMG00000167595		16.37:g.70057541A>T			A8K9Z5	RNA	SNP	-	NULL	ENST00000531894.1	37	NULL		16																																																																																			PDXDC2P	-	-	ENSG00000196696		0.363	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	PDXDC2P	HGNC	processed_transcript	OTTHUMT00000395258.1	251	0.00	0	A			70057541	70057541	-1	no_errors	ENST00000529089	ensembl	human	known	69_37n	rna	160	17.95	35	SNP	0.987	T
PHRF1	57661	genome.wustl.edu	37	11	608125	608125	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr11:608125C>T	ENST00000264555.5	+	14	2797	c.2669C>T	c.(2668-2670)aCa>aTa	p.T890I	PHRF1_ENST00000413872.2_Missense_Mutation_p.T888I|PHRF1_ENST00000416188.2_Missense_Mutation_p.T889I|PHRF1_ENST00000533464.1_Missense_Mutation_p.T886I	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	890					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						ATCTTTGGTACAGAGCCCGAA	0.642																																						dbGAP											0													66.0	76.0	72.0					11																	608125		2110	4217	6327	-	-	-	SO:0001583	missense	0			BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.2669C>T	11.37:g.608125C>T	ENSP00000264555:p.Thr890Ile		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.T890I	ENST00000264555.5	37	c.2669		11	.	.	.	.	.	.	.	.	.	.	C	5.480	0.273646	0.10403	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.19938	2.11;2.11;2.11;2.11	4.35	-0.0998	0.13623	.	1.377170	0.05151	N	0.496035	T	0.16896	0.0406	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.24426	0.063;0.103;0.103;0.063	B;B;B;B	0.18561	0.01;0.022;0.022;0.01	T	0.29458	-1.0011	10	0.42905	T	0.14	-0.1804	5.1718	0.15114	0.4007:0.4391:0.0:0.1603	.	886;888;889;890	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	I	890;888;889;886	ENSP00000264555:T890I;ENSP00000388589:T888I;ENSP00000410626:T889I;ENSP00000431870:T886I	ENSP00000264555:T890I	T	+	2	0	PHRF1	598125	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.130000	0.10498	-0.194000	0.10399	-0.378000	0.06908	ACA	PHRF1	-	NULL	ENSG00000070047		0.642	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHRF1	HGNC	protein_coding	OTTHUMT00000382133.1	10	0.00	0	C	NM_020901		608125	608125	+1	no_errors	ENST00000264555	ensembl	human	known	69_37n	missense	1	80.00	4	SNP	0.000	T
PIDD1	55367	genome.wustl.edu	37	11	803200	803201	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr11:803200_803201insG	ENST00000347755.5	-	3	823_824	c.682_683insC	c.(682-684)cggfs	p.R228fs	PIDD_ENST00000534649.1_5'Flank|PIDD_ENST00000411829.2_Frame_Shift_Ins_p.R228fs	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2																					GCTCTGCAGCCGGTTGGAGGCC	0.663																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0																														ENST00000347755.5:c.683dupC	11.37:g.803202_803202dupG	ENSP00000337797:p.Arg228fs			Frame_Shift_Ins	INS	pfam_Peptidase_S68_pidd,pfam_Death,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,smart_Death,pfscan_Death,pfscan_ZU5	p.R228fs	ENST00000347755.5	37	c.683_682	CCDS7716.1	11																																																																																			PIDD	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000177595		0.663	PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIDD	HGNC	protein_coding	OTTHUMT00000257103.1	20	0.00	0	-			803200	803201	-1	no_errors	ENST00000347755	ensembl	human	known	69_37n	frame_shift_ins	5	28.57	2	INS	0.254:0.831	G
PIK3IP1	113791	genome.wustl.edu	37	22	31685527	31685528	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr22:31685527_31685528insA	ENST00000215912.5	-	4	648_649	c.465_466insT	c.(463-468)cgggtgfs	p.V156fs	RP3-400N23.6_ENST00000440456.1_RNA|PIK3IP1_ENST00000487265.2_Frame_Shift_Ins_p.V77fs|PIK3IP1_ENST00000441972.1_Frame_Shift_Ins_p.V156fs|PIK3IP1_ENST00000402249.3_Frame_Shift_Ins_p.V156fs	NM_052880.4	NP_443112.2	Q96FE7	P3IP1_HUMAN	phosphoinositide-3-kinase interacting protein 1	156					negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase catalytic subunit binding (GO:0036313)			large_intestine(2)|lung(1)|ovary(1)	4						TTCATCCGCACCCGCTGGCTGA	0.609																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC011049	CCDS13893.1, CCDS46690.1	22q12.2	2007-04-13			ENSG00000100100	ENSG00000100100			24942	protein-coding gene	gene with protein product						12477932	Standard	NM_052880		Approved	HGFL, MGC17330	uc003akm.3	Q96FE7	OTTHUMG00000151256	ENST00000215912.5:c.465_466insT	22.37:g.31685527_31685528insA	ENSP00000215912:p.Val156fs		B4DRR9|D1MEI0|O00318|Q49A94|Q86YW2|Q8NCJ9	Frame_Shift_Ins	INS	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	p.V155fs	ENST00000215912.5	37	c.466_465	CCDS13893.1	22																																																																																			PIK3IP1	-	NULL	ENSG00000100100		0.609	PIK3IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3IP1	HGNC	protein_coding	OTTHUMT00000321939.1	29	0.00	0	-	NM_052880		31685527	31685528	-1	no_errors	ENST00000215912	ensembl	human	known	69_37n	frame_shift_ins	19	47.22	17	INS	1.000:0.507	A
PKD1L2	114780	genome.wustl.edu	37	16	81183417	81183417	+	RNA	SNP	C	C	G			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr16:81183417C>G	ENST00000525539.1	-	0	4630				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GAAGCTGCTGCGAGCGCAGCG	0.607																																						dbGAP											0													40.0	42.0	41.0					16																	81183417		1960	4148	6108	-	-	-			0			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81183417C>G			Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	NULL	p.R1544P	ENST00000525539.1	37	c.4631		16																																																																																			PKD1L2	-	NULL	ENSG00000166473		0.607	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	PKD1L2	HGNC	polymorphic_pseudogene	OTTHUMT00000387972.2	38	0.00	0	C			81183417	81183417	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000525539	ensembl	human	known	69_37n	missense	56	20.00	14	SNP	0.998	G
PLEKHA4	57664	genome.wustl.edu	37	19	49360695	49360696	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr19:49360695_49360696insC	ENST00000263265.6	-	9	1585_1586	c.1030_1031insG	c.(1030-1032)gccfs	p.A344fs	PLEKHA4_ENST00000355496.5_Intron|PLEKHA4_ENST00000596713.1_5'Flank	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	344	Pro-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		AACCATGGAGGCCCGGGTCCCA	0.554																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.1031dupG	19.37:g.49360698_49360698dupC	ENSP00000263265:p.Ala344fs		Q8N4M8|Q8N658	Frame_Shift_Ins	INS	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A344fs	ENST00000263265.6	37	c.1031_1030	CCDS12737.1	19																																																																																			PLEKHA4	-	NULL	ENSG00000105559		0.554	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA4	HGNC	protein_coding	OTTHUMT00000466216.1	53	0.00	0	-			49360695	49360696	-1	no_errors	ENST00000263265	ensembl	human	known	69_37n	frame_shift_ins	28	12.50	4	INS	1.000:1.000	C
PLXNA3	55558	genome.wustl.edu	37	X	153693388	153693389	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chrX:153693388_153693389delGA	ENST00000369682.3	+	11	2246_2247	c.2071_2072delGA	c.(2071-2073)gacfs	p.D691fs		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	691					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCCAGTGGGGACCTCCTGATC	0.624																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.2071_2072delGA	X.37:g.153693388_153693389delGA	ENSP00000358696:p.Asp691fs		Q5HY36	Frame_Shift_Del	DEL	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.D691fs	ENST00000369682.3	37	c.2071_2072	CCDS14752.1	X																																																																																			PLXNA3	-	NULL	ENSG00000130827		0.624	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	25	0.00	0	GA	NM_017514		153693388	153693389	+1	no_errors	ENST00000369682	ensembl	human	known	69_37n	frame_shift_del	15	33.33	8	DEL	1.000:1.000	-
POLD1	5424	genome.wustl.edu	37	19	50912445	50912445	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr19:50912445delG	ENST00000440232.2	+	16	2012	c.1959delG	c.(1957-1959)aagfs	p.K653fs	POLD1_ENST00000599857.1_Frame_Shift_Del_p.K653fs|POLD1_ENST00000595904.1_Frame_Shift_Del_p.K679fs	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	653					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CAGTGCGGAAGGGGCTGCTGC	0.627								DNA polymerases (catalytic subunits)																														dbGAP											0													60.0	59.0	59.0					19																	50912445		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.1959delG	19.37:g.50912445delG	ENSP00000406046:p.Lys653fs		Q8NER3|Q96H98	Frame_Shift_Del	DEL	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.L655fs	ENST00000440232.2	37	c.1959	CCDS12795.1	19																																																																																			POLD1	-	pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	ENSG00000062822		0.627	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	POLD1	HGNC	protein_coding	OTTHUMT00000464732.1	87	0.00	0	G			50912445	50912445	+1	no_errors	ENST00000440232	ensembl	human	known	69_37n	frame_shift_del	19	56.82	25	DEL	1.000	-
POLD1	5424	genome.wustl.edu	37	19	50912454	50912455	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	GC	GC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr19:50912454_50912455delGC	ENST00000440232.2	+	16	2021_2022	c.1968_1969delGC	c.(1966-1971)ctgcccfs	p.P657fs	POLD1_ENST00000599857.1_Frame_Shift_Del_p.P657fs|POLD1_ENST00000595904.1_Frame_Shift_Del_p.P683fs	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	657					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		AGGGGCTGCTGCCCCAGATCCT	0.614								DNA polymerases (catalytic subunits)																														dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.1968_1969delGC	19.37:g.50912454_50912455delGC	ENSP00000406046:p.Pro657fs		Q8NER3|Q96H98	Frame_Shift_Del	DEL	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.Q658fs	ENST00000440232.2	37	c.1968_1969	CCDS12795.1	19																																																																																			POLD1	-	pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	ENSG00000062822		0.614	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	POLD1	HGNC	protein_coding	OTTHUMT00000464732.1	84	0.00	0	GC			50912454	50912455	+1	no_errors	ENST00000440232	ensembl	human	known	69_37n	frame_shift_del	22	52.17	24	DEL	0.984:1.000	-
PRMT7	54496	genome.wustl.edu	37	16	68373740	68373741	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr16:68373740_68373741insG	ENST00000339507.5	+	9	1626_1627	c.796_797insG	c.(796-798)cggfs	p.R266fs	PRMT7_ENST00000348497.4_Frame_Shift_Ins_p.R192fs|PRMT7_ENST00000564441.1_3'UTR|PRMT7_ENST00000441236.1_Frame_Shift_Ins_p.R216fs|PRMT7_ENST00000449359.3_Frame_Shift_Ins_p.R216fs			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	266	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.R266W(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CCATAGCAGGCGGTTTGAACCT	0.51																																						dbGAP											1	Substitution - Missense(1)	lung(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"""Protein arginine methyltransferases"""	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.798dupG	16.37:g.68373742_68373742dupG	ENSP00000343103:p.Arg266fs		B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Frame_Shift_Ins	INS	pfam_Ribosomal-L11_MeTrfase_PrmA,pirsf_Arg_MeTrfase_PRMT7	p.F267fs	ENST00000339507.5	37	c.796_797	CCDS10866.1	16																																																																																			PRMT7	-	pirsf_Arg_MeTrfase_PRMT7	ENSG00000132600		0.510	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT7	HGNC	protein_coding	OTTHUMT00000268892.3	216	0.00	0	-	NM_019023		68373740	68373741	+1	no_errors	ENST00000339507	ensembl	human	known	69_37n	frame_shift_ins	112	15.79	21	INS	0.999:0.998	G
PSD2	84249	genome.wustl.edu	37	5	139201528	139201528	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr5:139201528G>A	ENST00000274710.3	+	6	1353	c.1148G>A	c.(1147-1149)cGg>cAg	p.R383Q		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	383	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCGTGAGCGGGTCCTCACA	0.602																																						dbGAP											0													154.0	121.0	132.0					5																	139201528		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1148G>A	5.37:g.139201528G>A	ENSP00000274710:p.Arg383Gln		D3DQD3|Q8N3J8	Missense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_Pleckstrin_homology,pfscan_Sec7	p.R383Q	ENST00000274710.3	37	c.1148	CCDS4216.1	5	.	.	.	.	.	.	.	.	.	.	g	28.4	4.918840	0.92249	.	.	ENSG00000146005	ENST00000274710	T	0.64260	-0.09	5.1	4.22	0.49857	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.057625	0.64402	N	0.000003	D	0.85517	0.5715	H	0.98786	4.33	0.58432	D	0.999999	P	0.51537	0.946	P	0.60068	0.868	D	0.90678	0.4603	10	0.87932	D	0	.	13.5949	0.61984	0.0757:0.0:0.9243:0.0	.	383	Q9BQI7	PSD2_HUMAN	Q	383	ENSP00000274710:R383Q	ENSP00000274710:R383Q	R	+	2	0	PSD2	139181712	1.000000	0.71417	0.804000	0.32291	0.915000	0.54546	9.313000	0.96297	1.277000	0.44412	0.509000	0.49947	CGG	PSD2	-	pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7	ENSG00000146005		0.602	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD2	HGNC	protein_coding	OTTHUMT00000251339.1	144	0.00	0	G	NM_032289		139201528	139201528	+1	no_errors	ENST00000274710	ensembl	human	known	69_37n	missense	69	38.94	44	SNP	0.996	A
RAI1	10743	genome.wustl.edu	37	17	17700773	17700774	+	Frame_Shift_Ins	INS	-	-	G	rs117995220	byFrequency	TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr17:17700773_17700774insG	ENST00000353383.1	+	3	4980_4981	c.4511_4512insG	c.(4510-4515)ctgggcfs	p.LG1504fs	RAI1_ENST00000261641.6_Frame_Shift_Ins_p.LG1504fs	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1504					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		ATGGAGGAGCTGGGCCTGGCCT	0.649																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.4514dupG	17.37:g.17700776_17700776dupG	ENSP00000323074:p.Leu1504fs		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Frame_Shift_Ins	INS	smart_Znf_PHD	p.L1506fs	ENST00000353383.1	37	c.4511_4512	CCDS11188.1	17																																																																																			RAI1	-	NULL	ENSG00000108557		0.649	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAI1	HGNC	protein_coding	OTTHUMT00000131775.1	42	0.00	0	-	NM_030665		17700773	17700774	+1	no_errors	ENST00000353383	ensembl	human	known	69_37n	frame_shift_ins	10	16.67	2	INS	0.998:1.000	G
RANBP3	8498	genome.wustl.edu	37	19	5933438	5933438	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr19:5933438delT	ENST00000340578.6	-	6	516	c.459delA	c.(457-459)caafs	p.Q153fs	RANBP3_ENST00000541471.1_Frame_Shift_Del_p.Q25fs|RANBP3_ENST00000591124.1_5'UTR|RANBP3_ENST00000034275.8_Frame_Shift_Del_p.Q85fs|RANBP3_ENST00000439268.2_Frame_Shift_Del_p.Q153fs|RANBP3_ENST00000591092.1_Frame_Shift_Del_p.Q85fs	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	153					intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CGCTGGGGGCTTGGCCGTGGA	0.617																																						dbGAP											0													37.0	43.0	41.0					19																	5933438		2025	4180	6205	-	-	-	SO:0001589	frameshift_variant	0			Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.459delA	19.37:g.5933438delT	ENSP00000341483:p.Gln153fs		B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Frame_Shift_Del	DEL	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	p.A154fs	ENST00000340578.6	37	c.459	CCDS42478.1	19																																																																																			RANBP3	-	NULL	ENSG00000031823		0.617	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RANBP3	HGNC	protein_coding	OTTHUMT00000452304.1	15	0.00	0	T	NM_007322		5933438	5933438	-1	no_errors	ENST00000340578	ensembl	human	known	69_37n	frame_shift_del	10	50.00	10	DEL	1.000	-
RARB	5915	genome.wustl.edu	37	3	25470351	25470351	+	Intron	SNP	C	C	T	rs201745230		TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr3:25470351C>T	ENST00000404969.1	+	2	178				RARB_ENST00000330688.4_Silent_p.T43T|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000437042.2_Intron			P10826	RARB_HUMAN	retinoic acid receptor, beta						embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TGACCCAAACCGAATGGCAGC	0.448																																						dbGAP											0													131.0	112.0	118.0					3																	25470351		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.179-32333C>T	3.37:g.25470351C>T			P12891|Q00989|Q15298|Q9UN48	Silent	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.T43	ENST00000404969.1	37	c.129		3																																																																																			RARB	-	NULL	ENSG00000077092		0.448	RARB-201	KNOWN	basic	protein_coding	RARB	HGNC	protein_coding		125	0.00	0	C	NM_000965, NM_016152		25470351	25470351	+1	no_errors	ENST00000330688	ensembl	human	known	69_37n	silent	130	16.56	26	SNP	1.000	T
RASGRF1	5923	genome.wustl.edu	37	15	79350823	79350823	+	Splice_Site	SNP	G	G	T			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr15:79350823G>T	ENST00000419573.3	-	3	658	c.384C>A	c.(382-384)agC>agA	p.S128R	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Splice_Site_p.S128R	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	128	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGGTCCTGTAGCTGTGGACAG	0.587																																						dbGAP											0													108.0	91.0	96.0					15																	79350823		2196	4293	6489	-	-	-	SO:0001630	splice_region_variant	0			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.384-1C>A	15.37:g.79350823G>T			F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S128R	ENST00000419573.3	37	c.384	CCDS10309.1	15	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090423	0.36855	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.12984	2.63	4.29	2.4	0.29515	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.38401	0.1039	M	0.89414	3.03	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.998;0.998;0.997	T	0.32666	-0.9898	10	0.87932	D	0	.	8.2957	0.31984	0.2016:0.0:0.7984:0.0	.	128;128;128;128	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	R	128	ENSP00000405963:S128R	ENSP00000378224:S128R	S	-	3	2	RASGRF1	77137878	1.000000	0.71417	0.996000	0.52242	0.150000	0.21749	1.228000	0.32588	1.146000	0.42352	0.542000	0.68232	AGC	RASGRF1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000058335		0.587	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	HGNC	protein_coding	OTTHUMT00000291371.3	211	0.47	1	G	NM_002891	Missense_Mutation	79350823	79350823	-1	no_errors	ENST00000419573	ensembl	human	known	69_37n	missense	86	47.24	77	SNP	1.000	T
REEP6	92840	genome.wustl.edu	37	19	1495370	1495371	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr19:1495370_1495371insC	ENST00000233596.3	+	2	297_298	c.193_194insC	c.(193-195)tacfs	p.Y65fs		NM_138393.1	NP_612402.1	Q96HR9	REEP6_HUMAN	receptor accessory protein 6	65					regulation of intracellular transport (GO:0032386)	apical part of cell (GO:0045177)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				lung(1)|ovary(1)	2		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGATTTGTGTACCCCGCATAT	0.639																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC008201	CCDS12070.1	19p13.3	2012-12-20	2006-02-08	2006-02-07	ENSG00000115255	ENSG00000115255		"""Receptor accessory proteins"""	30078	protein-coding gene	gene with protein product	"""polyposis locus protein 1-like 1"", ""deleted in polyposis 1-like 1"""	609346	"""chromosome 19 open reading frame 32"""	C19orf32		16271481, 15550249	Standard	NM_138393		Approved	DP1L1, FLJ25383	uc002ltc.3	Q96HR9	OTTHUMG00000180072	Exception_encountered	19.37:g.1495370_1495371insC	ENSP00000233596:p.Tyr65fs		B2RE01|D6W5Z0|Q96LM0	Frame_Shift_Ins	INS	pfam_TB2_DP1_HVA22	p.Y65fs	ENST00000233596.3	37	c.193_194	CCDS12070.1	19																																																																																			REEP6	-	pfam_TB2_DP1_HVA22	ENSG00000115255		0.639	REEP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REEP6	HGNC	protein_coding	OTTHUMT00000449623.1	22	0.00	0	-	NM_138393		1495370	1495371	+1	no_errors	ENST00000233596	ensembl	human	known	69_37n	frame_shift_ins	35	36.36	20	INS	0.995:1.000	C
RGAG1	57529	genome.wustl.edu	37	X	109694015	109694015	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chrX:109694015A>G	ENST00000465301.2	+	3	416	c.170A>G	c.(169-171)gAc>gGc	p.D57G	RGAG1_ENST00000540313.1_Missense_Mutation_p.D57G	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	57										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TCAGCCTCAGACCCTGGAGGG	0.498											OREG0019909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													239.0	199.0	213.0					X																	109694015		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.170A>G	X.37:g.109694015A>G	ENSP00000419786:p.Asp57Gly	1421	Q9P2M8	Missense_Mutation	SNP	NULL	p.D57G	ENST00000465301.2	37	c.170	CCDS14552.1	X	.	.	.	.	.	.	.	.	.	.	A	12.44	1.937611	0.34189	.	.	ENSG00000243978	ENST00000520821;ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.62364	0.03;0.03	4.16	4.16	0.48862	.	0.203601	0.24370	N	0.039107	T	0.53594	0.1806	L	0.27053	0.805	0.26635	N	0.972397	P	0.49961	0.93	P	0.50162	0.633	T	0.44982	-0.9292	9	.	.	.	-5.2051	8.5684	0.33554	1.0:0.0:0.0:0.0	.	57	Q8NET4	RGAG1_HUMAN	G	57	ENSP00000419786:D57G;ENSP00000441452:D57G	.	D	+	2	0	RGAG1	109580671	0.946000	0.32159	0.595000	0.28798	0.154000	0.21943	1.586000	0.36611	1.842000	0.53543	0.486000	0.48141	GAC	RGAG1	-	NULL	ENSG00000243978		0.498	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG1	HGNC	protein_coding	OTTHUMT00000057906.2	322	0.00	0	A	NM_020769		109694015	109694015	+1	no_errors	ENST00000465301	ensembl	human	known	69_37n	missense	101	22.73	30	SNP	0.716	G
RPL7	6129	genome.wustl.edu	37	8	74205837	74205837	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr8:74205837A>C	ENST00000352983.2	-	1	296	c.11T>G	c.(10-12)gTa>gGa	p.V4G	RPL7_ENST00000396466.1_Intron|RDH10_ENST00000240285.5_5'Flank|RPL7_ENST00000487500.1_5'Flank|RPL7_ENST00000396467.1_5'UTR|RPL7_ENST00000396465.1_Intron			P18124	RL7_HUMAN	ribosomal protein L7	4					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			AACTCACTCTACACCCTCCAT	0.498																																						dbGAP											0													88.0	75.0	80.0					8																	74205837		2203	4300	6503	-	-	-	SO:0001583	missense	0			L16557	CCDS6212.1	8q13.3	2011-04-06			ENSG00000147604	ENSG00000147604		"""L ribosomal proteins"""	10363	protein-coding gene	gene with protein product		604166				8360149, 8441630	Standard	XM_006716463		Approved	humL7-1, L7	uc003xzg.3	P18124	OTTHUMG00000134312	ENST00000352983.2:c.11T>G	8.37:g.74205837A>C	ENSP00000339795:p.Val4Gly		A8K504|Q15289|Q3KQU0|Q5I0X1|Q6IBM9	Missense_Mutation	SNP	pfam_Ribosomal_L30_N,pfam_Ribosomal_L30_ferredoxin-like,superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk	p.V4G	ENST00000352983.2	37	c.11	CCDS6212.1	8	.	.	.	.	.	.	.	.	.	.	A	9.521	1.108227	0.20714	.	.	ENSG00000147604	ENST00000352983	.	.	.	5.23	-5.89	0.02282	.	.	.	.	.	T	0.26011	0.0634	N	0.22421	0.69	0.20403	N	0.999905	B	0.06786	0.001	B	0.08055	0.003	T	0.16512	-1.0400	8	0.48119	T	0.1	.	11.5292	0.50597	0.6732:0.0:0.221:0.1058	.	4	P18124	RL7_HUMAN	G	4	.	ENSP00000339795:V4G	V	-	2	0	RPL7	74368391	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.145000	0.03194	-1.883000	0.01120	-2.200000	0.00306	GTA	RPL7	-	NULL	ENSG00000147604		0.498	RPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL7	HGNC	protein_coding	OTTHUMT00000259287.1	110	0.00	0	A	NM_000971		74205837	74205837	-1	no_errors	ENST00000352983	ensembl	human	known	69_37n	missense	70	15.66	13	SNP	0.000	C
RRNAD1	51093	genome.wustl.edu	37	1	156706431	156706431	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr1:156706431T>G	ENST00000368216.4	+	8	1944	c.1314T>G	c.(1312-1314)caT>caG	p.H438Q	RRNAD1_ENST00000476229.1_Missense_Mutation_p.C154G|RRNAD1_ENST00000368218.4_Missense_Mutation_p.C277G|RRNAD1_ENST00000481920.1_Intron|MRPL24_ENST00000478899.1_5'Flank	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	438						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						CAGGTTTCCATGCTGAGCTCC	0.532																																						dbGAP											0													132.0	123.0	126.0					1																	156706431		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC011382	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303			24273	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 66"""	C1orf66		10810093, 310876	Standard	NM_015997		Approved	CGI-41	uc001fpu.3	Q96FB5	OTTHUMG00000041302	ENST00000368216.4:c.1314T>G	1.37:g.156706431T>G	ENSP00000357199:p.His438Gln		D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Missense_Mutation	SNP	NULL	p.H438Q	ENST00000368216.4	37	c.1314	CCDS1154.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.85|11.85	1.762117|1.762117	0.31228|0.31228	.|.	.|.	ENSG00000143303|ENSG00000143303	ENST00000368218;ENST00000476229|ENST00000368216	.|T	.|0.39787	.|1.06	5.87|5.87	0.792|0.792	0.18625|0.18625	.|.	.|0.443754	.|0.26715	.|N	.|0.022875	T|T	0.07143|0.07143	0.0181|0.0181	N|N	0.17082|0.17082	0.46|0.46	0.22001|0.22001	N|N	0.999421|0.999421	B|B	0.23937|0.06786	0.094|0.001	B|B	0.17722|0.08055	0.019|0.003	T|T	0.36335|0.36335	-0.9752|-0.9752	8|10	0.87932|0.20519	D|T	0|0.43	-4.8252|-4.8252	4.626|4.626	0.12479|0.12479	0.0:0.2522:0.2302:0.5176|0.0:0.2522:0.2302:0.5176	.|.	277|438	Q4VX71|Q96FB5	.|RRNAD_HUMAN	G|Q	277;154|438	.|ENSP00000357199:H438Q	ENSP00000357201:C277G|ENSP00000357199:H438Q	C|H	+|+	1|3	0|2	RRNAD1|RRNAD1	154973055|154973055	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.386000|0.386000	0.30323|0.30323	0.158000|0.158000	0.16422|0.16422	0.158000|0.158000	0.19367|0.19367	0.533000|0.533000	0.62120|0.62120	TGC|CAT	RRNAD1	-	NULL	ENSG00000143303		0.532	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRNAD1	HGNC	protein_coding	OTTHUMT00000098973.1	166	0.00	0	T	NM_015997		156706431	156706431	+1	no_errors	ENST00000368216	ensembl	human	known	69_37n	missense	121	30.06	52	SNP	1.000	G
WDR54	84058	genome.wustl.edu	37	2	74653445	74653445	+	IGR	SNP	T	T	G			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr2:74653445T>G	ENST00000348227.4	+	0	1147				RTKN_ENST00000272430.5_Silent_p.P539P|RTKN_ENST00000233330.6_Silent_p.P489P|RTKN_ENST00000305557.5_Silent_p.P526P	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54											breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						ATCGCTGAGGTGGGAGGGGGG	0.647																																						dbGAP											0													67.0	79.0	75.0					2																	74653445		2202	4296	6498	-	-	-	SO:0001628	intergenic_variant	0			AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951		2.37:g.74653445T>G			D6W5I3|Q53H85|Q86V45	Silent	SNP	pfam_Pleckstrin_homology,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P539	ENST00000348227.4	37	c.1617	CCDS1940.1	2																																																																																			RTKN	-	NULL	ENSG00000114993		0.647	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTKN	HGNC	protein_coding	OTTHUMT00000252213.1	55	0.00	0	T	NM_032118		74653445	74653445	-1	no_errors	ENST00000272430	ensembl	human	known	69_37n	silent	23	17.86	5	SNP	0.003	G
SCOC	60592	genome.wustl.edu	37	4	141294858	141294858	+	Silent	SNP	G	G	A	rs183379470	byFrequency	TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr4:141294858G>A	ENST00000608372.1	+	1	195	c.168G>A	c.(166-168)gcG>gcA	p.A56A	SCOC_ENST00000394203.3_Intron|SCOC_ENST00000394201.4_5'UTR|SCOC_ENST00000506322.1_Intron|RP11-425I13.3_ENST00000608178.1_RNA|SCOC_ENST00000512749.1_Intron|SCOC_ENST00000502535.1_5'Flank|SCOC_ENST00000394205.3_Intron|SCOC_ENST00000506597.1_Silent_p.A56A|RP11-425I13.3_ENST00000609616.1_RNA|SCOC_ENST00000338517.4_Intron|RP11-425I13.3_ENST00000512692.2_RNA|SCOC_ENST00000510586.1_5'UTR			Q9UIL1	SCOC_HUMAN	short coiled-coil protein	56					positive regulation of macroautophagy (GO:0016239)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5	all_hematologic(180;0.162)					TTCTCCCGGCGCCTCAAGCGG	0.721													G|||	32	0.00638978	0.0204	0.0072	5008	,	,		11920	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													28.0	31.0	30.0					4																	141294858		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK027797	CCDS3750.1, CCDS54806.1, CCDS54807.1	4q28.3	2014-05-22	2003-03-19		ENSG00000153130	ENSG00000153130			20335	protein-coding gene	gene with protein product			"""short coiled coil protein"""			11303027	Standard	NM_032547		Approved	HRIHFB2072, SCOCO	uc011che.1	Q9UIL1	OTTHUMG00000133416	ENST00000608372.1:c.168G>A	4.37:g.141294858G>A			B7WPH7|D3DNY7|E9PB65|Q6P5T9|Q7L2Y0|Q7Z4P2|Q96JY9|Q9BZB2	Missense_Mutation	SNP	NULL	p.R19H	ENST00000608372.1	37	c.56	CCDS54806.1	4																																																																																			SCOC	-	NULL	ENSG00000153130		0.721	SCOC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCOC	HGNC	protein_coding	OTTHUMT00000257274.2	60	0.00	0	G			141294858	141294858	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000510586	ensembl	human	known	69_37n	missense	56	15.15	10	SNP	0.011	A
SDCBP2	27111	genome.wustl.edu	37	20	1293243	1293243	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr20:1293243delA	ENST00000360779.3	-	6	721	c.548delT	c.(547-549)gtgfs	p.V184fs	SDCBP2_ENST00000339987.3_Frame_Shift_Del_p.V184fs|SDCBP2_ENST00000467129.1_5'Flank|SDCBP2_ENST00000381812.1_Frame_Shift_Del_p.V184fs|SDCBP2_ENST00000381808.3_Frame_Shift_Del_p.V99fs	NM_080489.4	NP_536737.3	Q9H190	SDCB2_HUMAN	syndecan binding protein (syntenin) 2	184	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						GTCCCGAACCACCACGACAAT	0.627																																						dbGAP											0													102.0	86.0	91.0					20																	1293243		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF131809	CCDS13013.1, CCDS42848.1	20p13	2008-07-02			ENSG00000125775	ENSG00000125775			15756	protein-coding gene	gene with protein product						11152476	Standard	NM_080489		Approved	ST-2, SITAC18	uc021vzn.1	Q9H190	OTTHUMG00000031661	ENST00000360779.3:c.548delT	20.37:g.1293243delA	ENSP00000354013:p.Val184fs		O95892|Q5W0X1|Q9BZ42|Q9H567|Q9NRY8	Frame_Shift_Del	DEL	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V183fs	ENST00000360779.3	37	c.548	CCDS42848.1	20																																																																																			SDCBP2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000125775		0.627	SDCBP2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SDCBP2	HGNC	protein_coding	OTTHUMT00000077513.2	46	0.00	0	A	NM_080489		1293243	1293243	-1	no_errors	ENST00000339987	ensembl	human	known	69_37n	frame_shift_del	53	54.84	68	DEL	0.981	-
SEMA5A	9037	genome.wustl.edu	37	5	9224930	9224930	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr5:9224930T>G	ENST00000382496.5	-	8	1167	c.502A>C	c.(502-504)Aat>Cat	p.N168H		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	168	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCTGTGGAATTGTGCTGGGGA	0.542																																						dbGAP											0													97.0	87.0	90.0					5																	9224930		2203	4300	6503	-	-	-	SO:0001583	missense	0			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.502A>C	5.37:g.9224930T>G	ENSP00000371936:p.Asn168His		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt	p.N168H	ENST00000382496.5	37	c.502	CCDS3875.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.1|21.1	4.103903|4.103903	0.76983|0.76983	.|.	.|.	ENSG00000112902|ENSG00000112902	ENST00000382496;ENST00000513968|ENST00000514923	T;T|.	0.25250|.	1.81;1.81|.	5.36|5.36	5.36|5.36	0.76844|0.76844	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.64962|0.64962	0.2646|0.2646	M|M	0.61703|0.61703	1.905|1.905	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.76494|.	0.999|.	D|.	0.73380|.	0.98|.	T|T	0.64428|0.64428	-0.6410|-0.6410	10|5	0.59425|.	D|.	0.04|.	.|.	11.7694|11.7694	0.51949|0.51949	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	168|.	Q13591|.	SEM5A_HUMAN|.	H|P	168|115	ENSP00000371936:N168H;ENSP00000421961:N168H|.	ENSP00000371936:N168H|.	N|Q	-|-	1|2	0|0	SEMA5A|SEMA5A	9277930|9277930	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.860000|0.860000	0.49131|0.49131	7.450000|7.450000	0.80656|0.80656	2.033000|2.033000	0.60031|0.60031	0.519000|0.519000	0.50382|0.50382	AAT|CAA	SEMA5A	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000112902		0.542	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA5A	HGNC	protein_coding	OTTHUMT00000206989.2	242	0.82	2	T			9224930	9224930	-1	no_errors	ENST00000382496	ensembl	human	known	69_37n	missense	146	45.52	122	SNP	1.000	G
SF3B2	10992	genome.wustl.edu	37	11	65824744	65824745	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr11:65824744_65824745insC	ENST00000322535.6	+	7	724_725	c.675_676insC	c.(676-678)ccafs	p.P226fs	SF3B2_ENST00000528302.1_Frame_Shift_Ins_p.P209fs	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	226					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)	p.P226A(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						TAGTAGCTGCTCCAGTGGGCCC	0.545																																						dbGAP											1	Substitution - Missense(1)	urinary_tract(1)																																								-	-	-	SO:0001589	frameshift_variant	0			U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.677dupC	11.37:g.65824746_65824746dupC	ENSP00000318861:p.Pro226fs		A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Frame_Shift_Ins	INS	pfam_DUF382,pfam_PSP,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_PSP,pfscan_SAP_DNA-bd	p.V226fs	ENST00000322535.6	37	c.675_676	CCDS31612.1	11																																																																																			SF3B2	-	NULL	ENSG00000087365		0.545	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B2	HGNC	protein_coding	OTTHUMT00000391352.2	48	0.00	0	-			65824744	65824745	+1	no_errors	ENST00000322535	ensembl	human	known	69_37n	frame_shift_ins	13	13.33	2	INS	0.971:0.998	C
SMC2	10592	genome.wustl.edu	37	9	106880574	106880574	+	Silent	SNP	A	A	G			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr9:106880574A>G	ENST00000286398.7	+	15	2202	c.1914A>G	c.(1912-1914)aaA>aaG	p.K638K	SMC2_ENST00000303219.8_Silent_p.K638K|SMC2_ENST00000374787.3_Silent_p.K638K|SMC2_ENST00000374793.3_Silent_p.K638K	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	638	Flexible hinge.				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						ATGCCAAAAAAGTGGCCTTTG	0.378																																						dbGAP											0													148.0	136.0	140.0					9																	106880574		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.1914A>G	9.37:g.106880574A>G			Q6IEE0|Q9P1P2	Silent	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge	p.K638	ENST00000286398.7	37	c.1914	CCDS35086.1	9																																																																																			SMC2	-	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge	ENSG00000136824		0.378	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC2	HGNC	protein_coding	OTTHUMT00000053470.1	125	0.00	0	A			106880574	106880574	+1	no_errors	ENST00000286398	ensembl	human	known	69_37n	silent	43	40.28	29	SNP	1.000	G
SNPH	9751	genome.wustl.edu	37	20	1276924	1276925	+	Intron	INS	-	-	C			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr20:1276924_1276925insC	ENST00000381873.3	+	3	189				SNPH_ENST00000381867.1_Frame_Shift_Ins_p.GP14fs|RAD21L1_ENST00000402452.1_Intron|RAD21L1_ENST00000381882.2_Intron	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin						brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ACGTGGCCTGGCCCGGCCCTTT	0.703																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.-47-44->C	20.37:g.1276927_1276927dupC			Q8IYI3	Frame_Shift_Ins	INS	NULL	p.A16fs	ENST00000381873.3	37	c.41_42	CCDS13012.1	20																																																																																			SNPH	-	NULL	ENSG00000101298		0.703	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNPH	HGNC	protein_coding	OTTHUMT00000145240.2	70	0.00	0	-	NM_014723		1276924	1276925	+1	no_errors	ENST00000381867	ensembl	human	known	69_37n	frame_shift_ins	15	11.76	2	INS	0.967:0.968	C
SPPL3	121665	genome.wustl.edu	37	12	121202863	121202863	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr12:121202863C>T	ENST00000353487.2	-	11	1597	c.1094G>A	c.(1093-1095)cGg>cAg	p.R365Q		NM_139015.4	NP_620584.2	Q8TCT6	SPPL3_HUMAN	signal peptide peptidase like 3	366						Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCACATCCGCCGGAGGTCGCC	0.463																																						dbGAP											0													54.0	51.0	52.0					12																	121202863		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9208.1	12q24.31	2012-02-21			ENSG00000157837	ENSG00000157837			30424	protein-coding gene	gene with protein product	"""intramembrane protease 2"", ""presenilin-like protein 4"""	608240				12139484	Standard	NM_139015		Approved	IMP2, PSL4, MGC90402, MGC126674, MGC126676, DKFZP586C1324	uc001tzd.3	Q8TCT6	OTTHUMG00000169232	ENST00000353487.2:c.1094G>A	12.37:g.121202863C>T	ENSP00000288680:p.Arg365Gln		Q3MJ04|Q8TAU4|Q96DD9	Missense_Mutation	SNP	pfam_Peptidase_A22B_SPP,smart_Peptidase_A22	p.R365Q	ENST00000353487.2	37	c.1094	CCDS9208.1	12	.	.	.	.	.	.	.	.	.	.	C	29.3	4.990875	0.93106	.	.	ENSG00000157837	ENST00000353487;ENST00000405631	T	0.17854	2.25	5.26	5.26	0.73747	.	0.054572	0.85682	N	0.000000	T	0.30823	0.0777	L	0.55834	1.745	0.80722	D	1	P;D	0.64830	0.85;0.994	B;P	0.53450	0.337;0.726	T	0.00690	-1.1608	10	0.33141	T	0.24	-26.2117	19.2386	0.93873	0.0:1.0:0.0:0.0	.	366;365	Q8TCT6;Q3MJ04	PSL4_HUMAN;.	Q	365;364	ENSP00000288680:R365Q	ENSP00000288680:R365Q	R	-	2	0	AC069214.1	119687246	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.286000	0.78671	2.607000	0.88179	0.655000	0.94253	CGG	SPPL3	-	pfam_Peptidase_A22B_SPP	ENSG00000157837		0.463	SPPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPPL3	HGNC	protein_coding	OTTHUMT00000402980.2	234	0.00	0	C	NM_139015		121202863	121202863	-1	no_errors	ENST00000353487	ensembl	human	known	69_37n	missense	103	19.38	25	SNP	1.000	T
ST3GAL3	6487	genome.wustl.edu	37	1	44365341	44365341	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr1:44365341C>T	ENST00000361392.4	+	9	863	c.686C>T	c.(685-687)gCc>gTc	p.A229V	ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.A198V|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.A267V|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.A229V|ST3GAL3_ENST00000335430.6_Intron|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.A283V|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.A198V|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.A213V|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.A283V|ST3GAL3_ENST00000262915.3_Missense_Mutation_p.A298V|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.A267V|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.A244V|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.A298V|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.A213V|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.A229V|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.A229V	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	229					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				TTTGTCCTCGCCGGCTTCAAG	0.577																																						dbGAP											0													86.0	86.0	86.0					1																	44365341		2203	4300	6503	-	-	-	SO:0001583	missense	0			L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"""Sialyltransferases"""	10866	protein-coding gene	gene with protein product	"""ST3Gal III"""	606494	"""sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)"", ""mental retardation, non-syndromic, autosomal recessive, 12"""	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.686C>T	1.37:g.44365341C>T	ENSP00000355341:p.Ala229Val		A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.A298V	ENST00000361392.4	37	c.893	CCDS492.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.57|14.57	2.573998|2.573998	0.45902|0.45902	.|.	.|.	ENSG00000126091|ENSG00000126091	ENST00000361392;ENST00000361400;ENST00000262915;ENST00000372375;ENST00000351035;ENST00000372374;ENST00000353126;ENST00000347631;ENST00000372369;ENST00000361746;ENST00000372368;ENST00000372372;ENST00000531993;ENST00000533933;ENST00000332628|ENST00000490502	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.24908|.	1.83;1.83;1.83;1.83;1.83;1.83;1.83;1.83;1.83;1.83;1.83;1.83;1.83;1.83;1.83|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.059749|.	0.64402|.	D|.	0.000002|.	T|T	0.35856|0.35856	0.0946|0.0946	N|N	0.02286|0.02286	-0.61|-0.61	0.80722|0.80722	D|D	1|1	D;D;D;B;D;B;D;B;B;B;D|.	0.67145|.	0.991;0.996;0.996;0.36;0.986;0.114;0.982;0.328;0.412;0.207;0.993|.	P;P;P;B;P;B;P;B;B;B;D|.	0.65573|.	0.894;0.893;0.893;0.161;0.893;0.131;0.828;0.321;0.25;0.237;0.936|.	T|T	0.33979|0.33979	-0.9847|-0.9847	10|5	0.02654|.	T|.	1|.	.|.	19.8211|19.8211	0.96595|0.96595	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	229;182;213;198;229;267;213;283;229;298;244|.	Q11203-5;Q11203-21;Q11203-16;Q11203-7;Q11203-8;Q11203-19;Q11203-15;Q11203-13;Q11203;Q11203-4;Q5T4W8|.	.;.;.;.;.;.;.;.;SIAT6_HUMAN;.;.|.	V|S	229;213;298;283;267;198;229;244;229;298;283;267;213;229;198|28	ENSP00000355341:A229V;ENSP00000354748:A213V;ENSP00000262915:A298V;ENSP00000361450:A283V;ENSP00000316999:A267V;ENSP00000361449:A198V;ENSP00000330463:A229V;ENSP00000317192:A244V;ENSP00000361444:A229V;ENSP00000354657:A298V;ENSP00000361443:A283V;ENSP00000361447:A267V;ENSP00000432682:A213V;ENSP00000432965:A229V;ENSP00000329755:A198V|.	ENSP00000262915:A298V|.	A|P	+|+	2|1	0|0	ST3GAL3|ST3GAL3	44137928|44137928	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.953000|0.953000	0.61014|0.61014	7.399000|7.399000	0.79935|0.79935	2.687000|2.687000	0.91594|0.91594	0.655000|0.655000	0.94253|0.94253	GCC|CCG	ST3GAL3	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000126091		0.577	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST3GAL3	HGNC	protein_coding	OTTHUMT00000019964.1	79	0.00	0	C	NM_174963		44365341	44365341	+1	no_errors	ENST00000262915	ensembl	human	known	69_37n	missense	42	14.29	7	SNP	0.999	T
STARD9	57519	genome.wustl.edu	37	15	42980456	42980457	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr15:42980456_42980457insGG	ENST00000290607.7	+	23	6737_6738	c.6680_6681insGG	c.(6679-6684)gtaaaafs	p.K2228fs		NM_020759.2	NP_065810.2	Q9P2P6	STAR9_HUMAN	StAR-related lipid transfer (START) domain containing 9	2228					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spindle assembly (GO:0051225)	centriole (GO:0005814)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|lipid binding (GO:0008289)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						GGCCAGTTTGTAAAAGCATCAG	0.47																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB037721	CCDS53935.1	15q15.2	2013-10-16	2007-08-16		ENSG00000159433	ENSG00000159433		"""StAR-related lipid transfer (START) domain containing"""	19162	protein-coding gene	gene with protein product		614642	"""START domain containing 9"""			10718198	Standard	NM_020759		Approved	KIAA1300	uc010udj.2	Q9P2P6	OTTHUMG00000175799	Exception_encountered	15.37:g.42980456_42980457insGG	ENSP00000290607:p.Lys2228fs		Q68DG2|Q6AI01|Q6ZWK0|Q9UF70	Frame_Shift_Ins	INS	pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.K2228fs	ENST00000290607.7	37	c.6680_6681	CCDS53935.1	15																																																																																			STARD9	-	NULL	ENSG00000159433		0.470	STARD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD9	HGNC	protein_coding	OTTHUMT00000431094.1	62	0.00	0	-			42980456	42980457	+1	no_errors	ENST00000290607	ensembl	human	known	69_37n	frame_shift_ins	32	63.22	55	INS	0.000:0.000	GG
STARD9	57519	genome.wustl.edu	37	15	42980460	42980461	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr15:42980460_42980461insTG	ENST00000290607.7	+	23	6741_6742	c.6684_6685insTG	c.(6685-6687)gcafs	p.A2229fs		NM_020759.2	NP_065810.2	Q9P2P6	STAR9_HUMAN	StAR-related lipid transfer (START) domain containing 9	2229					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spindle assembly (GO:0051225)	centriole (GO:0005814)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|lipid binding (GO:0008289)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						AGTTTGTAAAAGCATCAGCAAG	0.465																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB037721	CCDS53935.1	15q15.2	2013-10-16	2007-08-16		ENSG00000159433	ENSG00000159433		"""StAR-related lipid transfer (START) domain containing"""	19162	protein-coding gene	gene with protein product		614642	"""START domain containing 9"""			10718198	Standard	NM_020759		Approved	KIAA1300	uc010udj.2	Q9P2P6	OTTHUMG00000175799	Exception_encountered	15.37:g.42980460_42980461insTG	ENSP00000290607:p.Ala2229fs		Q68DG2|Q6AI01|Q6ZWK0|Q9UF70	Frame_Shift_Ins	INS	pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A2228fs	ENST00000290607.7	37	c.6684_6685	CCDS53935.1	15																																																																																			STARD9	-	NULL	ENSG00000159433		0.465	STARD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD9	HGNC	protein_coding	OTTHUMT00000431094.1	59	0.00	0	-			42980460	42980461	+1	no_errors	ENST00000290607	ensembl	human	known	69_37n	frame_shift_ins	25	67.53	52	INS	0.000:0.000	TG
STOM	2040	genome.wustl.edu	37	9	124103484	124103484	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr9:124103484C>G	ENST00000286713.2	-	7	880	c.863G>C	c.(862-864)gGc>gCc	p.G288A	AL161784.1_ENST00000594963.1_5'Flank|STOM_ENST00000538954.1_Missense_Mutation_p.G237A|STOM_ENST00000347359.2_Missense_Mutation_p.G123A	NM_001270526.1|NM_004099.5	NP_001257455.1|NP_004090.4	P27105	STOM_HUMAN	stomatin	288					protein homooligomerization (GO:0051260)|regulation of acid-sensing ion channel activity (GO:1901585)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|vesicle (GO:0031982)				endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		TCTACACTAGCCTAGATGGCT	0.453																																						dbGAP											0													144.0	132.0	136.0					9																	124103484		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6830.1, CCDS6831.1, CCDS75892.1	9q34.1	2008-07-21	2002-11-11	2002-11-15	ENSG00000148175	ENSG00000148175			3383	protein-coding gene	gene with protein product		133090	"""erythrocyte membrane protein band 7.2 (stomatin)"""	EPB7, EPB72		1883838	Standard	NM_198194		Approved	BND7	uc004blh.4	P27105	OTTHUMG00000020590	ENST00000286713.2:c.863G>C	9.37:g.124103484C>G	ENSP00000286713:p.Gly288Ala		B1AM77|Q14087|Q15609|Q5VX96|Q96FK4	Missense_Mutation	SNP	pfam_Band_7,smart_Band_7,prints_Stomatin	p.G288A	ENST00000286713.2	37	c.863	CCDS6830.1	9	.	.	.	.	.	.	.	.	.	.	C	3.334	-0.136128	0.06711	.	.	ENSG00000148175	ENST00000286713;ENST00000538954;ENST00000347359	D;D;D	0.98362	-4.89;-4.73;-4.59	4.65	1.76	0.24704	.	0.533866	0.15774	N	0.245280	D	0.92835	0.7721	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.0	D	0.87259	0.2278	10	0.87932	D	0	.	6.8859	0.24199	0.0:0.5689:0.3368:0.0943	.	123;288	B1AM77;P27105	.;STOM_HUMAN	A	288;237;123	ENSP00000286713:G288A;ENSP00000445764:G237A;ENSP00000339607:G123A	ENSP00000286713:G288A	G	-	2	0	STOM	123143305	0.015000	0.18098	0.001000	0.08648	0.003000	0.03518	0.358000	0.20216	0.183000	0.20059	-1.407000	0.01130	GGC	STOM	-	NULL	ENSG00000148175		0.453	STOM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STOM	HGNC	protein_coding	OTTHUMT00000053889.1	122	0.00	0	C	NM_004099		124103484	124103484	-1	no_errors	ENST00000286713	ensembl	human	known	69_37n	missense	58	34.44	31	SNP	0.007	G
STRN	6801	genome.wustl.edu	37	2	37193534	37193535	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr2:37193534_37193535insG	ENST00000263918.4	-	1	80_81	c.72_73insC	c.(70-75)ctcgggfs	p.G25fs	STRN_ENST00000379213.2_Frame_Shift_Ins_p.G25fs	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	25					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				gccAGAGGCCCGAGCCCCTTGG	0.757																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"""WD repeat domain containing"""	11424	protein-coding gene	gene with protein product		614765	"""striatin, calmodulin-binding protein"""			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.73dupC	2.37:g.37193535_37193535dupG	ENSP00000263918:p.Gly25fs		Q3KP65|Q53TQ8|Q9NP38	Frame_Shift_Ins	INS	pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G24fs	ENST00000263918.4	37	c.73_72	CCDS1784.1	2																																																																																			STRN	-	NULL	ENSG00000115808		0.757	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRN	HGNC	protein_coding	OTTHUMT00000218568.1	8	0.00	0	-			37193534	37193535	-1	no_errors	ENST00000263918	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	1.000:0.998	G
TAAR5	9038	genome.wustl.edu	37	6	132910165	132910165	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr6:132910165T>G	ENST00000258034.2	-	1	712	c.661A>C	c.(661-663)Aag>Cag	p.K221Q		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	221					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		ACAAAGATCTTCACATACAAG	0.488																																						dbGAP											0													46.0	45.0	45.0					6																	132910165		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.661A>C	6.37:g.132910165T>G	ENSP00000258034:p.Lys221Gln		D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Trace_amine_rcpt	p.K221Q	ENST00000258034.2	37	c.661	CCDS5156.1	6	.	.	.	.	.	.	.	.	.	.	T	16.88	3.244086	0.59103	.	.	ENSG00000135569	ENST00000258034	T	0.38077	1.16	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.076314	0.49916	D	0.000123	T	0.40956	0.1138	L	0.49350	1.555	0.43512	D	0.995777	D	0.59767	0.986	P	0.62649	0.905	T	0.39396	-0.9616	10	0.72032	D	0.01	-8.6151	11.8549	0.52431	0.0:0.0:0.1458:0.8542	.	221	O14804	TAAR5_HUMAN	Q	221	ENSP00000258034:K221Q	ENSP00000258034:K221Q	K	-	1	0	TAAR5	132951858	0.997000	0.39634	1.000000	0.80357	0.943000	0.58893	4.851000	0.62896	2.343000	0.79666	0.533000	0.62120	AAG	TAAR5	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000135569		0.488	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAAR5	HGNC	protein_coding	OTTHUMT00000042257.1	88	0.00	0	T	NM_003967		132910165	132910165	-1	no_errors	ENST00000258034	ensembl	human	known	69_37n	missense	27	25.00	9	SNP	0.998	G
TANC2	26115	genome.wustl.edu	37	17	61457104	61457105	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr17:61457104_61457105insG	ENST00000424789.2	+	13	2390_2391	c.2386_2387insG	c.(2386-2388)tggfs	p.W796fs	TANC2_ENST00000389520.4_Frame_Shift_Ins_p.W796fs|AC015923.1_ENST00000431604.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	796					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						ACTTGCCTTCTGGTTTTCCCGC	0.376																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.2388dupG	17.37:g.61457106_61457106dupG	ENSP00000387593:p.Trp796fs		Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Frame_Shift_Ins	INS	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.F797fs	ENST00000424789.2	37	c.2386_2387	CCDS45754.1	17																																																																																			TANC2	-	NULL	ENSG00000170921		0.376	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	HGNC	protein_coding	OTTHUMT00000444765.1	255	0.00	0	-			61457104	61457105	+1	no_errors	ENST00000424789	ensembl	human	known	69_37n	frame_shift_ins	140	10.83	17	INS	1.000:1.000	G
TEP1	7011	genome.wustl.edu	37	14	20845601	20845601	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr14:20845601C>A	ENST00000262715.5	-	41	5966	c.5926G>T	c.(5926-5928)Gcc>Tcc	p.A1976S	TEP1_ENST00000545983.1_Missense_Mutation_p.A314S|TEP1_ENST00000556935.1_Missense_Mutation_p.A1868S	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1976					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CTTAGCCAGGCCAGGGCGGAC	0.592																																						dbGAP											0													62.0	55.0	57.0					14																	20845601		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5926G>T	14.37:g.20845601C>A	ENSP00000262715:p.Ala1976Ser		A0AUV9	Missense_Mutation	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A1976S	ENST00000262715.5	37	c.5926	CCDS9548.1	14	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977393	0.34848	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.71817	0.7;-0.6;1.17	5.33	4.44	0.53790	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.629809	0.16354	N	0.218070	T	0.66761	0.2822	L	0.61036	1.89	0.27483	N	0.95253	B;B;P;B	0.34724	0.376;0.419;0.465;0.295	B;B;B;B	0.33690	0.141;0.168;0.124;0.081	T	0.61505	-0.7049	10	0.45353	T	0.12	-2.9815	11.2881	0.49234	0.0:0.9137:0.0:0.0863	.	314;1868;1319;1976	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	S	1976;1976;1868;314	ENSP00000262715:A1976S;ENSP00000452574:A1868S;ENSP00000438849:A314S	ENSP00000262715:A1976S	A	-	1	0	TEP1	19915441	1.000000	0.71417	0.999000	0.59377	0.544000	0.35116	2.516000	0.45520	1.257000	0.44085	0.563000	0.77884	GCC	TEP1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000129566		0.592	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	56	0.00	0	C	NM_007110		20845601	20845601	-1	no_errors	ENST00000262715	ensembl	human	known	69_37n	missense	18	58.14	25	SNP	1.000	A
TFPI2	7980	genome.wustl.edu	37	7	93516633	93516633	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr7:93516633A>C	ENST00000222543.5	-	4	883	c.571T>G	c.(571-573)Tgt>Ggt	p.C191G	GNGT1_ENST00000455502.1_Intron|TFPI2_ENST00000545378.1_Intron	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	191	BPTI/Kunitz inhibitor 3. {ECO:0000255|PROSITE-ProRule:PRU00031}.				blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TTCCCTCCACAGCCAGTATAG	0.403																																						dbGAP											0													99.0	90.0	93.0					7																	93516633		2203	4300	6503	-	-	-	SO:0001583	missense	0			L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.571T>G	7.37:g.93516633A>C	ENSP00000222543:p.Cys191Gly		Q66ME8|Q8NAK6|Q9UC86	Missense_Mutation	SNP	pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.C191G	ENST00000222543.5	37	c.571	CCDS5632.1	7	.	.	.	.	.	.	.	.	.	.	A	22.1	4.250823	0.80135	.	.	ENSG00000105825	ENST00000222543	T	0.67698	-0.28	5.58	5.58	0.84498	Proteinase inhibitor I2, Kunitz metazoa (5);Proteinase inhibitor I2, Kunitz, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.87943	0.6305	H	0.96916	3.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.91918	0.5545	10	0.87932	D	0	.	15.7441	0.77926	1.0:0.0:0.0:0.0	.	123;180;191	Q8NE89;Q8NAK6;P48307	.;.;TFPI2_HUMAN	G	191	ENSP00000222543:C191G	ENSP00000222543:C191G	C	-	1	0	TFPI2	93354569	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.681000	0.74523	2.261000	0.74972	0.533000	0.62120	TGT	TFPI2	-	pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	ENSG00000105825		0.403	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFPI2	HGNC	protein_coding	OTTHUMT00000254720.2	102	0.97	1	A	NM_006528		93516633	93516633	-1	no_errors	ENST00000222543	ensembl	human	known	69_37n	missense	26	29.73	11	SNP	1.000	C
TLE6	79816	genome.wustl.edu	37	19	2987237	2987238	+	Splice_Site	DEL	GT	GT	-			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	GT	GT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr19:2987237_2987238delGT	ENST00000246112.4	+	7	742		c.e7+1		TLE6_ENST00000478073.2_Splice_Site|TLE6_ENST00000452088.1_Splice_Site	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6						regulation of transcription, DNA-templated (GO:0006355)	cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGACAGACGTGAGTGTCCCT	0.614																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			AK024071	CCDS12100.1, CCDS45910.1	19p13.3	2014-03-07	2014-03-07		ENSG00000104953	ENSG00000104953		"""WD repeat domain containing"""	30788	protein-coding gene	gene with protein product		612399	"""transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)"""			11486032	Standard	NM_024760		Approved	FLJ14009, GRG6	uc002lwt.2	Q9H808	OTTHUMG00000156793	ENST00000246112.4:c.541+1GT>-	19.37:g.2987237_2987238delGT			J3KMZ1	Splice_Site	DEL	-	e6+1	ENST00000246112.4	37	c.541+1_541+1	CCDS45910.1	19																																																																																			TLE6	-	-	ENSG00000104953		0.614	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TLE6	HGNC	protein_coding	OTTHUMT00000345996.3	56	0.00	0	GT	NM_024760	Intron	2987237	2987238	+1	no_errors	ENST00000246112	ensembl	human	known	69_37n	splice_site_del	35	55.13	43	DEL	0.010:0.007	-
TANGO6	79613	genome.wustl.edu	37	16	68936373	68936375	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	GGT	GGT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr16:68936373_68936375delGGT	ENST00000261778.1	+	9	1645_1647	c.1633_1635delGGT	c.(1633-1635)ggtdel	p.G546del		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	546						integral component of membrane (GO:0016021)											TGCCACTCAAGGTGGCATTATGA	0.473																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.1633_1635delGGT	16.37:g.68936373_68936375delGGT	ENSP00000261778:p.Gly546del		Q569F9|Q9H9K1	In_Frame_Del	DEL	pfam_DUF2411,superfamily_ARM-type_fold	p.G546in_frame_del	ENST00000261778.1	37	c.1633_1635	CCDS45516.1	16																																																																																			TMCO7	-	superfamily_ARM-type_fold	ENSG00000103047		0.473	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO7	HGNC	protein_coding	OTTHUMT00000433471.2	119	0.00	0	GGT	XM_928235.2		68936373	68936375	+1	no_errors	ENST00000261778	ensembl	human	known	69_37n	in_frame_del	93	33.33	47	DEL	1.000:1.000:0.997	-
TMEM151B	441151	genome.wustl.edu	37	6	44274744	44274744	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr6:44274744A>G	ENST00000438774.2	+	3	641	c.641A>G	c.(640-642)gAc>gGc	p.D214G	RP11-444E17.6_ENST00000505802.1_Silent_p.R126R|AARS2_ENST00000244571.4_Silent_p.R355R			Q8IW70	T151B_HUMAN	transmembrane protein 151B	0						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)	6						GCACAGCTCGACGCAGGATCC	0.562																																						dbGAP											0													78.0	72.0	74.0					6																	44274744		2203	4300	6503	-	-	-	SO:0001583	missense	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	ENST00000438774.2:c.641A>G	6.37:g.44274744A>G	ENSP00000409337:p.Asp214Gly		Q5T9V7	Missense_Mutation	SNP	NULL	p.D214G	ENST00000438774.2	37	c.641		6	.	.	.	.	.	.	.	.	.	.	A	13.37	2.216292	0.39201	.	.	ENSG00000178233	ENST00000438774;ENST00000430110	.	.	.	4.42	-2.43	0.06522	.	.	.	.	.	T	0.34919	0.0914	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40289	-0.9571	7	0.87932	D	0	-11.0658	12.2649	0.54672	0.4403:0.0:0.5597:0.0	.	214	Q8IW70-2	.	G	214	.	ENSP00000410997:D214G	D	+	2	0	TMEM151B	44382722	0.569000	0.26643	0.992000	0.48379	0.670000	0.39368	-0.224000	0.09164	-0.308000	0.08792	0.379000	0.24179	GAC	TMEM151B	-	NULL	ENSG00000178233		0.562	TMEM151B-003	PUTATIVE	basic|appris_candidate	protein_coding	TMEM151B	HGNC	protein_coding	OTTHUMT00000470401.1	138	0.00	0	A	NM_001039704		44274744	44274744	+1	no_errors	ENST00000438774	ensembl	human	putative	69_37n	missense	131	27.62	50	SNP	0.804	G
TMEM201	199953	genome.wustl.edu	37	1	9657089	9657089	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr1:9657089delC	ENST00000340381.6	+	3	416	c.407delC	c.(406-408)gccfs	p.A137fs	TMEM201_ENST00000377376.4_Frame_Shift_Del_p.A137fs|TMEM201_ENST00000340305.5_Frame_Shift_Del_p.A137fs	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	137					fibroblast migration (GO:0010761)|nuclear migration (GO:0007097)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		AAGCAGCTGGCCGCCTTCGCT	0.682																																						dbGAP											0													50.0	52.0	52.0					1																	9657089		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807			33719	protein-coding gene	gene with protein product							Standard	NM_001130924		Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340381.6:c.407delC	1.37:g.9657089delC	ENSP00000344503:p.Ala137fs		B9EH90|Q5SNT3	Frame_Shift_Del	DEL	pfam_DUF2448,pfam_DUF2349	p.A137fs	ENST00000340381.6	37	c.407	CCDS44055.2	1																																																																																			TMEM201	-	pfam_DUF2349	ENSG00000188807		0.682	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM201	HGNC	protein_coding	OTTHUMT00000127672.1	25	0.00	0	C	NM_001010866		9657089	9657089	+1	no_errors	ENST00000340381	ensembl	human	known	69_37n	frame_shift_del	36	84.03	200	DEL	0.999	-
TMEM207	131920	genome.wustl.edu	37	3	190158147	190158147	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr3:190158147G>C	ENST00000354905.2	-	4	256	c.190C>G	c.(190-192)Ctt>Gtt	p.L64V		NM_207316.1	NP_997199.1	Q6UWW9	TM207_HUMAN	transmembrane protein 207	64						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(4)	7	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)		CCACAGAGAAGAGCTGCCACC	0.512																																						dbGAP											0													44.0	42.0	43.0					3																	190158147		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC071780	CCDS3297.1	3q28	2008-02-18			ENSG00000198398	ENSG00000198398			33705	protein-coding gene	gene with protein product		614786					Standard	NM_207316		Approved		uc003fsj.2	Q6UWW9	OTTHUMG00000156213	ENST00000354905.2:c.190C>G	3.37:g.190158147G>C	ENSP00000346981:p.Leu64Val			Missense_Mutation	SNP	NULL	p.L64V	ENST00000354905.2	37	c.190	CCDS3297.1	3	.	.	.	.	.	.	.	.	.	.	G	11.39	1.623577	0.28889	.	.	ENSG00000198398	ENST00000354905	T	0.59638	0.25	6.16	3.16	0.36331	.	0.128261	0.35207	N	0.003372	T	0.60327	0.2260	M	0.64404	1.975	0.09310	N	1	D	0.57571	0.98	P	0.52514	0.701	T	0.54589	-0.8271	10	0.87932	D	0	-3.9114	6.7076	0.23260	0.1633:0.0:0.6831:0.1536	.	64	Q6UWW9	TM207_HUMAN	V	64	ENSP00000346981:L64V	ENSP00000346981:L64V	L	-	1	0	TMEM207	191640841	0.759000	0.28416	0.219000	0.23793	0.004000	0.04260	0.626000	0.24492	0.942000	0.37525	0.650000	0.86243	CTT	TMEM207	-	NULL	ENSG00000198398		0.512	TMEM207-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM207	HGNC	protein_coding	OTTHUMT00000343515.1	119	0.00	0	G	NM_207316		190158147	190158147	-1	no_errors	ENST00000354905	ensembl	human	known	69_37n	missense	60	24.05	19	SNP	0.012	C
TMEM9	252839	genome.wustl.edu	37	1	201112979	201112979	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr1:201112979G>C	ENST00000367330.1	-	4	884	c.368C>G	c.(367-369)aCt>aGt	p.T123S	TMEM9_ENST00000367333.2_Missense_Mutation_p.T123S|TMEM9_ENST00000367332.1_Missense_Mutation_p.T126S|TMEM9_ENST00000485839.2_Missense_Mutation_p.T123S|TMEM9_ENST00000367334.5_Missense_Mutation_p.T123S|TMEM9_ENST00000472411.1_5'UTR			Q9P0T7	TMEM9_HUMAN	transmembrane protein 9	123					transport (GO:0006810)	integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)				liver(1)|lung(1)|stomach(1)	3		Breast(1374;0.000301)				CAGTTGCTCAGTATATGCATC	0.567																																						dbGAP											0													124.0	112.0	116.0					1																	201112979		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1408.1, CCDS73001.1	1q41	2008-02-05			ENSG00000116857	ENSG00000116857			18823	protein-coding gene	gene with protein product							Standard	NM_001288565		Approved	TMEM9A	uc001gvy.3	Q9P0T7	OTTHUMG00000035831	ENST00000367330.1:c.368C>G	1.37:g.201112979G>C	ENSP00000356299:p.Thr123Ser		B1ALM6|Q96NQ9|Q9BQF5	Missense_Mutation	SNP	pfam_TMEM9	p.T126S	ENST00000367330.1	37	c.377	CCDS1408.1	1	.	.	.	.	.	.	.	.	.	.	G	3.563	-0.089192	0.07097	.	.	ENSG00000116857	ENST00000367334;ENST00000367332;ENST00000367330;ENST00000367329;ENST00000367333;ENST00000455367;ENST00000435310	.	.	.	5.14	5.14	0.70334	.	0.052908	0.85682	D	0.000000	T	0.44623	0.1302	L	0.27053	0.805	0.53005	D	0.999963	P;P;P	0.45768	0.866;0.664;0.664	P;B;B	0.47573	0.55;0.427;0.298	T	0.28459	-1.0043	9	0.05959	T	0.93	-19.3957	17.1353	0.86737	0.0:0.0:1.0:0.0	.	148;126;123	B4E1H4;B1ALM5;Q9P0T7	.;.;TMEM9_HUMAN	S	123;126;123;123;126;130;123	.	ENSP00000356298:T123S	T	-	2	0	TMEM9	199379602	1.000000	0.71417	0.880000	0.34516	0.090000	0.18270	7.465000	0.80898	2.546000	0.85860	0.655000	0.94253	ACT	TMEM9	-	pfam_TMEM9	ENSG00000116857		0.567	TMEM9-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	TMEM9	HGNC	protein_coding	OTTHUMT00000087160.1	113	0.00	0	G	NM_016456		201112979	201112979	-1	no_errors	ENST00000367332	ensembl	human	known	69_37n	missense	79	26.85	29	SNP	1.000	C
TP53	7157	genome.wustl.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	GRCh37	CM010465|CM900211	TP53	M	rs121912651						151.0	112.0	125.0					17																	7577539		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R248W	ENST00000269305.4	37	c.742	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	240	0.00	0	G	NM_000546		7577539	7577539	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	94	43.37	72	SNP	1.000	A
TRBV25-1	28562	genome.wustl.edu	37	7	142379031	142379031	+	RNA	SNP	C	C	T			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr7:142379031C>T	ENST00000390398.3	+	0	336									T cell receptor beta variable 25-1																		CTGGAGTCTGCCAGGCCCTCA	0.498																																						dbGAP											0													69.0	69.0	69.0					7																	142379031		1942	4147	6089	-	-	-			0			L27610		7q34	2012-02-07			ENSG00000211751	ENSG00000211751		"""T cell receptors / TRB locus"""	12205	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV251, TCRBV11S1A1T, TCRBV25S1			OTTHUMG00000158868		7.37:g.142379031C>T				Missense_Mutation	SNP	pfam_Ig_V-set,pfscan_Ig-like	p.A100V	ENST00000390398.3	37	c.299		7																																																																																			TRBV25-1	-	pfam_Ig_V-set,pfscan_Ig-like	ENSG00000211751		0.498	TRBV25-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TRBV25-1	HGNC	TR_V_gene	OTTHUMT00000352476.2	117	0.00	0	C	NG_001333		142379031	142379031	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390398	ensembl	human	known	69_37n	missense	86	28.10	34	SNP	0.005	T
TTC38	55020	genome.wustl.edu	37	22	46671227	46671227	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr22:46671227G>T	ENST00000381031.3	+	5	524	c.448G>T	c.(448-450)Gat>Tat	p.D150Y	TTC38_ENST00000445282.2_Intron	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	150						extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						ATTTTCCCATGATGCTTATTT	0.478																																						dbGAP											0													112.0	110.0	110.0					22																	46671227		1861	4103	5964	-	-	-	SO:0001583	missense	0				CCDS43030.1	22q13	2013-01-11			ENSG00000075234	ENSG00000075234		"""Tetratricopeptide (TTC) repeat domain containing"""	26082	protein-coding gene	gene with protein product							Standard	NM_017931		Approved	FLJ20699	uc003bhi.3	Q5R3I4	OTTHUMG00000150494	ENST00000381031.3:c.448G>T	22.37:g.46671227G>T	ENSP00000370419:p.Asp150Tyr		Q8WV27|Q9NWP8	Missense_Mutation	SNP	NULL	p.D150Y	ENST00000381031.3	37	c.448	CCDS43030.1	22	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959765	0.34565	.	.	ENSG00000075234	ENST00000381031;ENST00000421359	T;T	0.62232	0.96;0.04	5.7	5.7	0.88788	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.82093	0.4962	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.83090	-0.0133	9	.	.	.	-20.3127	18.8363	0.92164	0.0:0.0:1.0:0.0	.	150	Q5R3I4	TTC38_HUMAN	Y	150	ENSP00000370419:D150Y;ENSP00000410095:D150Y	.	D	+	1	0	TTC38	45049891	1.000000	0.71417	0.966000	0.40874	0.817000	0.46193	9.189000	0.94928	2.705000	0.92388	0.650000	0.86243	GAT	TTC38	-	NULL	ENSG00000075234		0.478	TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TTC38	HGNC	protein_coding	OTTHUMT00000318469.1	106	0.00	0	G	NM_017931		46671227	46671227	+1	no_errors	ENST00000381031	ensembl	human	novel	69_37n	missense	62	35.42	34	SNP	1.000	T
TTPAL	79183	genome.wustl.edu	37	20	43115317	43115317	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr20:43115317delC	ENST00000372904.3	+	5	864	c.721delC	c.(721-723)ccafs	p.P241fs	TTPAL_ENST00000372906.2_Intron|TTPAL_ENST00000262605.4_Frame_Shift_Del_p.P241fs	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	241	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					intracellular (GO:0005622)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						CATCATAAAACCATTTCTAAA	0.373																																						dbGAP											0													82.0	78.0	80.0					20																	43115317		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC003071	CCDS13332.2	20q13.12	2008-06-23	2008-06-23	2008-06-23	ENSG00000124120	ENSG00000124120			16114	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 121"""	C20orf121			Standard	NM_024331		Approved	dJ179M20.3	uc002xmd.2	Q9BTX7	OTTHUMG00000032536	ENST00000372904.3:c.721delC	20.37:g.43115317delC	ENSP00000361995:p.Pro241fs		E1P5X3|Q5QPC1|Q9H1G2|Q9NQG8	Frame_Shift_Del	DEL	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.P241fs	ENST00000372904.3	37	c.721	CCDS13332.2	20																																																																																			TTPAL	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	ENSG00000124120		0.373	TTPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTPAL	HGNC	protein_coding	OTTHUMT00000106886.2	133	0.00	0	C	NM_024331		43115317	43115317	+1	no_errors	ENST00000262605	ensembl	human	known	69_37n	frame_shift_del	140	51.38	149	DEL	1.000	-
UBR4	23352	genome.wustl.edu	37	1	19524455	19524455	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr1:19524455C>G	ENST00000375254.3	-	6	764	c.737G>C	c.(736-738)aGt>aCt	p.S246T	UBR4_ENST00000375226.2_Missense_Mutation_p.S246T|UBR4_ENST00000375267.2_Missense_Mutation_p.S246T|UBR4_ENST00000375217.2_Missense_Mutation_p.S246T	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	246					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTCTTGAAGACTAGCCACGTT	0.408																																						dbGAP											0													160.0	152.0	154.0					1																	19524455		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.737G>C	1.37:g.19524455C>G	ENSP00000364403:p.Ser246Thr		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.S246T	ENST00000375254.3	37	c.737	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	C	4.996	0.184870	0.09495	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.89	5.89	0.94794	.	0.042996	0.85682	D	0.000000	T	0.14700	0.0355	N	0.22421	0.69	0.80722	D	1	B	0.29531	0.247	B	0.24155	0.051	T	0.07673	-1.0760	10	0.08599	T	0.76	.	18.8165	0.92079	0.0:1.0:0.0:0.0	.	246	Q5T4S7	UBR4_HUMAN	T	246	ENSP00000364403:S246T;ENSP00000364416:S246T;ENSP00000364365:S246T;ENSP00000364374:S246T	ENSP00000364365:S246T	S	-	2	0	UBR4	19397042	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.656000	0.67988	2.788000	0.95919	0.557000	0.71058	AGT	UBR4	-	NULL	ENSG00000127481		0.408	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	135	0.00	0	C	NM_020765		19524455	19524455	-1	no_errors	ENST00000375267	ensembl	human	known	69_37n	missense	85	14.85	15	SNP	1.000	G
UNC5B	219699	genome.wustl.edu	37	10	73050830	73050830	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr10:73050830G>C	ENST00000335350.6	+	9	1674	c.1258G>C	c.(1258-1260)Ggt>Cgt	p.G420R	UNC5B_ENST00000373192.4_Missense_Mutation_p.G409R	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	420					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CCTGACTGGTGGTTTCCACCC	0.597																																						dbGAP											0													243.0	229.0	234.0					10																	73050830		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1258G>C	10.37:g.73050830G>C	ENSP00000334329:p.Gly420Arg		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Death,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like	p.G420R	ENST00000335350.6	37	c.1258	CCDS7309.1	10	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315378	0.60524	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.56444	0.58;0.46	5.39	4.48	0.54585	.	0.108387	0.64402	N	0.000005	T	0.73938	0.3651	M	0.82823	2.61	0.50813	D	0.999899	D;D	0.76494	0.999;0.997	D;D	0.71414	0.973;0.921	T	0.78510	-0.2176	10	0.56958	D	0.05	-29.0247	16.178	0.81874	0.0:0.1335:0.8665:0.0	.	409;420	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	R	420;409	ENSP00000334329:G420R;ENSP00000362288:G409R	ENSP00000334329:G420R	G	+	1	0	UNC5B	72720836	1.000000	0.71417	0.887000	0.34795	0.074000	0.17049	9.869000	0.99810	1.266000	0.44231	0.655000	0.94253	GGT	UNC5B	-	NULL	ENSG00000107731		0.597	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5B	HGNC	protein_coding	OTTHUMT00000048541.1	75	0.00	0	G	NM_170744		73050830	73050830	+1	no_errors	ENST00000335350	ensembl	human	known	69_37n	missense	38	26.92	14	SNP	1.000	C
VAMP3	9341	genome.wustl.edu	37	1	7837293	7837293	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr1:7837293G>A	ENST00000054666.6	+	3	261	c.146G>A	c.(145-147)cGt>cAt	p.R49H	RP3-467L1.6_ENST00000602406.1_RNA|VAMP3_ENST00000470357.1_Missense_Mutation_p.R21H	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN	vesicle-associated membrane protein 3	49	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				calcium ion-dependent exocytosis (GO:0017156)|exocytosis (GO:0006887)|Golgi to plasma membrane protein transport (GO:0043001)|membrane fusion (GO:0061025)|positive regulation of receptor recycling (GO:0001921)|protein complex assembly (GO:0006461)|retrograde transport, endosome to Golgi (GO:0042147)|SNARE complex assembly (GO:0035493)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synapse (GO:0045202)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		TTAGACGACCGTGCAGACGCA	0.458																																						dbGAP											0													93.0	90.0	91.0					1																	7837293		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC003570	CCDS88.1	1p36.23	2013-02-13	2012-10-17		ENSG00000049245	ENSG00000049245		"""Vesicle-associated membrane proteins"""	12644	protein-coding gene	gene with protein product	"""cellubrevin"""	603657				9885218	Standard	NM_004781		Approved	CEB	uc001aol.3	Q15836	OTTHUMG00000001225	ENST00000054666.6:c.146G>A	1.37:g.7837293G>A	ENSP00000054666:p.Arg49His		Q9BRV4	Missense_Mutation	SNP	pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,pfscan_Synaptobrevin,prints_Synaptobrevin	p.R49H	ENST00000054666.6	37	c.146	CCDS88.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.471078	0.96274	.	.	ENSG00000049245	ENST00000054666	T	0.48201	0.82	6.17	5.24	0.73138	Synaptobrevin (4);	0.000000	0.85682	D	0.000000	T	0.79879	0.4522	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87463	0.2409	10	0.87932	D	0	0.1649	16.7418	0.85461	0.0:0.0:0.8698:0.1302	.	49	Q15836	VAMP3_HUMAN	H	49	ENSP00000054666:R49H	ENSP00000054666:R49H	R	+	2	0	VAMP3	7759880	1.000000	0.71417	0.904000	0.35570	0.984000	0.73092	9.760000	0.98935	1.561000	0.49584	0.655000	0.94253	CGT	VAMP3	-	pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,pfscan_Synaptobrevin,prints_Synaptobrevin	ENSG00000049245		0.458	VAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAMP3	HGNC	protein_coding	OTTHUMT00000003625.1	132	0.00	0	G	NM_004781		7837293	7837293	+1	no_errors	ENST00000054666	ensembl	human	known	69_37n	missense	89	18.18	20	SNP	1.000	A
VPS16	64601	genome.wustl.edu	37	20	2843348	2843348	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr20:2843348C>A	ENST00000380445.3	+	12	1267	c.1195C>A	c.(1195-1197)Ctg>Atg	p.L399M	VPS16_ENST00000481812.2_3'UTR|VPS16_ENST00000380443.3_Missense_Mutation_p.L53M|VPS16_ENST00000380469.3_Intron|PTPRA_ENST00000380393.3_5'Flank	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	399					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						GCAGAAGAGTCTGCTCAGGGT	0.662																																						dbGAP											0													29.0	33.0	32.0					20																	2843348		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.1195C>A	20.37:g.2843348C>A	ENSP00000369810:p.Leu399Met		Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16	p.L399M	ENST00000380445.3	37	c.1195	CCDS13036.1	20	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933058	0.73442	.	.	ENSG00000215305	ENST00000380445;ENST00000380443	T;T	0.68624	-0.34;-0.09	5.08	4.14	0.48551	Vps16, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.80701	0.4673	M	0.83312	2.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	T	0.82283	-0.0534	10	0.87932	D	0	-10.2393	9.3003	0.37842	0.0:0.9033:0.0:0.0967	.	53;399	Q5JUA8;Q9H269	.;VPS16_HUMAN	M	399;53	ENSP00000369810:L399M;ENSP00000369808:L53M	ENSP00000369808:L53M	L	+	1	2	VPS16	2791348	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	4.406000	0.59748	1.382000	0.46385	0.561000	0.74099	CTG	VPS16	-	pfam_Vps16_N,pirsf_VPS16	ENSG00000215305		0.662	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS16	HGNC	protein_coding	OTTHUMT00000077658.2	19	0.00	0	C	NM_022575		2843348	2843348	+1	no_errors	ENST00000380445	ensembl	human	known	69_37n	missense	13	59.38	19	SNP	1.000	A
XPO7	23039	genome.wustl.edu	37	8	21862535	21862535	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr8:21862535G>A	ENST00000252512.9	+	28	3300	c.3200G>A	c.(3199-3201)cGa>cAa	p.R1067Q	XPO7_ENST00000433566.4_Missense_Mutation_p.R1068Q|XPO7_ENST00000434536.1_Missense_Mutation_p.R1076Q	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	1067					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GCATTCCGTCGAGAAGTCAAC	0.488																																						dbGAP											0													138.0	139.0	138.0					8																	21862535		1993	4168	6161	-	-	-	SO:0001583	missense	0			AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.3200G>A	8.37:g.21862535G>A	ENSP00000252512:p.Arg1067Gln		O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.R1076Q	ENST00000252512.9	37	c.3227	CCDS47818.1	8	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407820	0.83340	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.23348	1.91;1.91;1.91	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.44540	0.1298	L	0.60067	1.865	0.80722	D	1	D;P;P	0.76494	0.999;0.812;0.812	D;B;B	0.65773	0.938;0.229;0.069	T	0.09487	-1.0672	10	0.15066	T	0.55	-6.9643	18.4375	0.90652	0.0:0.0:1.0:0.0	.	1068;1076;1067	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	Q	1076;1067;1068	ENSP00000404853:R1076Q;ENSP00000252512:R1067Q;ENSP00000410249:R1068Q	ENSP00000252512:R1067Q	R	+	2	0	XPO7	21918481	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.219000	0.95173	2.760000	0.94817	0.650000	0.86243	CGA	XPO7	-	NULL	ENSG00000130227		0.488	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO7	HGNC	protein_coding	OTTHUMT00000375494.1	124	0.00	0	G	NM_015024		21862535	21862535	+1	no_errors	ENST00000434536	ensembl	human	known	69_37n	missense	39	32.76	19	SNP	1.000	A
YIPF1	54432	genome.wustl.edu	37	1	54325811	54325811	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr1:54325811C>A	ENST00000072644.1	-	10	1183	c.847G>T	c.(847-849)Gca>Tca	p.A283S	YIPF1_ENST00000539954.1_Missense_Mutation_p.A308S|YIPF1_ENST00000371399.1_Missense_Mutation_p.A100S	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	283						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						ATCTCTGGTGCATCAAAAAAG	0.428																																						dbGAP											0													117.0	106.0	110.0					1																	54325811		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC009674	CCDS584.1	1p33-p32.1	2008-02-05			ENSG00000058799	ENSG00000058799		"""Yip1 domain family"""	25231	protein-coding gene	gene with protein product						12477932	Standard	NM_018982		Approved	DJ167A19.1, FinGER1	uc001cvu.3	Q9Y548	OTTHUMG00000008074	ENST00000072644.1:c.847G>T	1.37:g.54325811C>A	ENSP00000072644:p.Ala283Ser		B2RCM7|D3DQ40|Q9NWJ1	Missense_Mutation	SNP	pfam_Yip1,superfamily_Ribonuclease/ribotoxin	p.A308S	ENST00000072644.1	37	c.922	CCDS584.1	1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.584118	0.28268	.	.	ENSG00000058799	ENST00000371399;ENST00000072644;ENST00000539954	.	.	.	5.06	5.06	0.68205	.	0.166738	0.52532	D	0.000064	T	0.47820	0.1466	L	0.48362	1.52	0.38728	D	0.953594	P	0.35844	0.524	B	0.28849	0.095	T	0.49409	-0.8943	9	0.18276	T	0.48	-32.2325	16.8094	0.85715	0.0:1.0:0.0:0.0	.	283	Q9Y548	YIPF1_HUMAN	S	100;283;308	.	ENSP00000072644:A283S	A	-	1	0	YIPF1	54098399	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.790000	0.62453	2.625000	0.88918	0.655000	0.94253	GCA	YIPF1	-	NULL	ENSG00000058799		0.428	YIPF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	YIPF1	HGNC	protein_coding	OTTHUMT00000022103.5	219	0.00	0	C	NM_018982		54325811	54325811	-1	no_errors	ENST00000539954	ensembl	human	known	69_37n	missense	85	14.14	14	SNP	1.000	A
ZNF141	7700	genome.wustl.edu	37	4	366959	366959	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr4:366959C>G	ENST00000240499.7	+	4	882	c.733C>G	c.(733-735)Cat>Gat	p.H245D	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	245					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						CTTTGCTAAGCATAAAATAAT	0.333																																						dbGAP											0													77.0	86.0	83.0					4																	366959		2198	4298	6496	-	-	-	SO:0001583	missense	0			L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"""Zinc fingers, C2H2-type"", ""-"""	12926	protein-coding gene	gene with protein product		194648	"""zinc finger protein 141 (clone pHZ-44)"""	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.733C>G	4.37:g.366959C>G	ENSP00000240499:p.His245Asp		Q6DK07	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H245D	ENST00000240499.7	37	c.733	CCDS33931.1	4	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661919	0.47572	.	.	ENSG00000131127	ENST00000240499	D	0.86769	-2.17	1.23	1.23	0.21249	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94006	0.8080	H	0.99261	4.49	0.32825	D	0.503259	P	0.49358	0.923	P	0.52514	0.701	D	0.93230	0.6616	8	.	.	.	.	7.8726	0.29576	0.0:1.0:0.0:0.0	.	245	Q15928	ZN141_HUMAN	D	245	ENSP00000240499:H245D	.	H	+	1	0	ZNF141	356959	0.841000	0.29509	0.029000	0.17559	0.768000	0.43524	3.422000	0.52749	0.585000	0.29608	0.305000	0.20034	CAT	ZNF141	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000131127		0.333	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF141	HGNC	protein_coding	OTTHUMT00000357710.1	72	0.00	0	C	NM_003441		366959	366959	+1	no_errors	ENST00000240499	ensembl	human	known	69_37n	missense	26	42.22	19	SNP	0.677	G
ZKSCAN7	55888	genome.wustl.edu	37	3	44612620	44612620	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr3:44612620G>A	ENST00000273320.3	+	6	2447	c.2018G>A	c.(2017-2019)aGt>aAt	p.S673N	ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.S673N|RP11-944L7.5_ENST00000419137.1_Intron	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	673					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)										AAGGTATTCAGTTATAGCTCC	0.403																																						dbGAP											0													103.0	107.0	106.0					3																	44612620		2203	4300	6503	-	-	-	SO:0001583	missense	0			L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.2018G>A	3.37:g.44612620G>A	ENSP00000273320:p.Ser673Asn		A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.S673N	ENST00000273320.3	37	c.2018	CCDS2715.1	3	.	.	.	.	.	.	.	.	.	.	.	13.38	2.220921	0.39201	.	.	ENSG00000196345	ENST00000426540;ENST00000273320;ENST00000315777	T;T	0.07567	3.18;3.18	4.2	4.2	0.49525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.202075	0.24838	N	0.035195	T	0.06872	0.0175	L	0.41079	1.255	0.80722	D	1	P	0.41546	0.754	B	0.38562	0.276	T	0.22730	-1.0208	10	0.37606	T	0.19	-9.3986	5.8803	0.18852	0.1032:0.1977:0.6991:0.0	.	673	Q9P0L1	ZN167_HUMAN	N	673;673;111	ENSP00000395524:S673N;ENSP00000273320:S673N	ENSP00000273320:S673N	S	+	2	0	ZNF167	44587624	0.000000	0.05858	0.980000	0.43619	0.953000	0.61014	-0.893000	0.04127	2.179000	0.69175	0.655000	0.94253	AGT	ZNF167	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196345		0.403	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF167	HGNC	protein_coding	OTTHUMT00000256752.4	120	0.00	0	G	NM_018651		44612620	44612620	+1	no_errors	ENST00000273320	ensembl	human	known	69_37n	missense	47	54.81	57	SNP	0.784	A
ZRANB1	54764	genome.wustl.edu	37	10	126662834	126662834	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0FX-01A-11W-A050-09	TCGA-AN-A0FX-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2523cf22-1a16-42be-8560-833ed2031e3c	c87dc746-b04b-4b8e-af6a-ac51f04e3d6a	g.chr10:126662834C>G	ENST00000359653.4	+	5	1665	c.1294C>G	c.(1294-1296)Ctg>Gtg	p.L432V		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	432	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		GGACAGTCGACTGTATGCACT	0.433																																						dbGAP											0													151.0	140.0	144.0					10																	126662834		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"""Zinc fingers, RAN-binding domain containing"", ""OTU domain containing"""	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.1294C>G	10.37:g.126662834C>G	ENSP00000352676:p.Leu432Val		B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Missense_Mutation	SNP	pfam_OTU,pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_OTU,pfscan_Znf_RanBP2	p.L432V	ENST00000359653.4	37	c.1294	CCDS7642.1	10	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193767	0.58017	.	.	ENSG00000019995	ENST00000359653	T	0.35973	1.28	5.74	3.88	0.44766	Ovarian tumour, otubain (1);	0.000000	0.85682	D	0.000000	T	0.60996	0.2312	M	0.80982	2.52	0.80722	D	1	D	0.69078	0.997	D	0.74348	0.983	T	0.63875	-0.6538	10	0.66056	D	0.02	-16.6842	14.0034	0.64446	0.0:0.8109:0.0:0.1891	.	432	Q9UGI0	ZRAN1_HUMAN	V	432	ENSP00000352676:L432V	ENSP00000352676:L432V	L	+	1	2	ZRANB1	126652824	0.990000	0.36364	0.354000	0.25760	0.917000	0.54804	2.758000	0.47565	0.369000	0.24510	-0.797000	0.03246	CTG	ZRANB1	-	pfscan_OTU	ENSG00000019995		0.433	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZRANB1	HGNC	protein_coding	OTTHUMT00000050898.1	175	0.00	0	C	NM_017580		126662834	126662834	+1	no_errors	ENST00000359653	ensembl	human	known	69_37n	missense	105	25.00	35	SNP	0.980	G
