#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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ABCC8	6833	genome.wustl.edu	37	11	17419331	17419331	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr11:17419331G>A	ENST00000389817.3	-	31	3835	c.3767C>T	c.(3766-3768)gCa>gTa	p.A1256V	ABCC8_ENST00000302539.4_Missense_Mutation_p.A1257V			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1256	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CACCACACATGCACCGATGTA	0.627																																																	0													90.0	85.0	86.0					11																	17419331		2200	4293	6493	SO:0001583	missense	6833			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.3767C>T	11.37:g.17419331G>A	ENSP00000374467:p.Ala1256Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.A1257V	ENST00000389817.3	37	c.3770	CCDS31437.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.110819	0.94292	.	.	ENSG00000006071	ENST00000389817;ENST00000302539	D;D	0.89485	-2.52;-2.52	5.18	5.18	0.71444	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.92355	0.7574	M	0.64997	1.995	0.80722	D	1	P	0.46859	0.885	P	0.55011	0.766	D	0.92507	0.6013	10	0.56958	D	0.05	.	19.0427	0.93008	0.0:0.0:1.0:0.0	.	1256	Q09428	ABCC8_HUMAN	V	1256;1257	ENSP00000374467:A1256V;ENSP00000303960:A1257V	ENSP00000303960:A1257V	A	-	2	0	ABCC8	17375907	1.000000	0.71417	0.916000	0.36221	0.963000	0.63663	9.526000	0.98042	2.580000	0.87095	0.555000	0.69702	GCA	ABCC8	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.627	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1	G	NM_000352		17419331	-1	no_errors	ENST00000302539	ensembl	human	known	70_37	missense	SNP	1.000	A
ALOXE3	59344	genome.wustl.edu	37	17	8013799	8013799	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr17:8013799delG	ENST00000448843.2	-	9	1345	c.1005delC	c.(1003-1005)cccfs	p.P335fs	ALOXE3_ENST00000380149.1_Frame_Shift_Del_p.P491fs|ALOXE3_ENST00000318227.3_Frame_Shift_Del_p.P467fs	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	335	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						GGCAGTGGGTGGGGGCCTCCG	0.667											OREG0024154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													36.0	36.0	36.0					17																	8013799		2197	4287	6484	SO:0001589	frameshift_variant	59344			AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.1005delC	17.37:g.8013799delG	ENSP00000400581:p.Pro335fs	Somatic	646	WXS	Illumina HiSeq	Phase_IV	B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Frame_Shift_Del	DEL	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_C	p.T468fs	ENST00000448843.2	37	c.1401	CCDS11130.1	17																																																																																			ALOXE3	-	pfam_LipOase_C,superfamily_LipOase_C		0.667	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOXE3	HGNC	protein_coding	OTTHUMT00000441475.1	G			8013799	-1	no_errors	ENST00000318227	ensembl	human	known	70_37	frame_shift_del	DEL	0.000	-
ANKLE1	126549	genome.wustl.edu	37	19	17397495	17397495	+	3'UTR	SNP	G	G	T	rs576892988|rs563327402	byFrequency	TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr19:17397495G>T	ENST00000394458.3	+	0	2258				ANKLE1_ENST00000598347.1_Missense_Mutation_p.V589L|ANKLE1_ENST00000594072.1_3'UTR|ANKLE1_ENST00000404085.1_3'UTR	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1											large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						gtgtgtgtgtgtgtgtttgtg	0.527													G|||	277	0.0553115	0.0356	0.0605	5008	,	,		14143	0.0327		0.0577	False		,,,				2504	0.0992																0																																										SO:0001624	3_prime_UTR_variant	126549			AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"""Ankyrin repeat domain containing"""	26812	protein-coding gene	gene with protein product	"""LEM domain containing 6"""		"""ankyrin repeat domain 41"""	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.*134G>T	19.37:g.17397495G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8VU82|Q8N8J8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V589L	ENST00000394458.3	37	c.1765	CCDS12354.2	19	.	.	.	.	.	.	.	.	.	.	G	3.093	-0.186420	0.06340	.	.	ENSG00000160117	ENST00000438921	.	.	.	1.37	-1.1	0.09872	.	.	.	.	.	T	0.16685	0.0401	.	.	.	0.09310	N	0.999999	B	0.28552	0.215	B	0.16289	0.015	T	0.18808	-1.0325	6	.	.	.	.	3.9732	0.09462	0.4687:0.0:0.5313:0.0	.	589	E7ETZ9	.	L	589	.	.	V	+	1	0	ANKLE1	17258495	0.011000	0.17503	0.035000	0.18076	0.094000	0.18550	0.998000	0.29744	-0.222000	0.09958	0.274000	0.19336	GTG	ANKLE1	-	NULL		0.527	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE1	HGNC	protein_coding	OTTHUMT00000325392.2	G	NM_152363		17397495	+1	no_errors	ENST00000598347	ensembl	human	putative	70_37	missense	SNP	0.072	T
ANKRD20A4	728747	genome.wustl.edu	37	9	69421905	69421905	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr9:69421905delA	ENST00000357336.3	+	14	1650	c.1369delA	c.(1369-1371)aaafs	p.K458fs		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	458										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						TATGCTGTACAAAAAAAATAG	0.269																																																	0													2.0	2.0	2.0					9																	69421905		406	1294	1700	SO:0001589	frameshift_variant	728747				CCDS43828.1	9q21.11	2013-01-10			ENSG00000172014	ENSG00000172014		"""Ankyrin repeat domain containing"""	31982	protein-coding gene	gene with protein product							Standard	NM_001098805		Approved	OTTHUMG00000066855	uc004afn.3	Q4UJ75	OTTHUMG00000066855	ENST00000357336.3:c.1369delA	9.37:g.69421905delA	ENSP00000349891:p.Lys458fs	Somatic		WXS	Illumina HiSeq	Phase_IV		Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.N459fs	ENST00000357336.3	37	c.1369	CCDS43828.1	9																																																																																			ANKRD20A4	-	NULL		0.269	ANKRD20A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD20A4	HGNC	protein_coding	OTTHUMT00000143287.3	A	NM_001098805		69421905	+1	no_errors	ENST00000357336	ensembl	human	known	70_37	frame_shift_del	DEL	0.373	-
ARR3	407	genome.wustl.edu	37	X	69497631	69497632	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chrX:69497631_69497632insA	ENST00000307959.8	+	10	726_727	c.675_676insA	c.(676-678)aaafs	p.K226fs	ARR3_ENST00000374495.3_Frame_Shift_Ins_p.K226fs	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	226					endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						ACAAGGTCATCAAAAAAATCAA	0.465																																																	0																																										SO:0001589	frameshift_variant	407				CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"""arrestin 4"""	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768	ENST00000307959.8:c.682dupA	X.37:g.69497638_69497638dupA	ENSP00000311538:p.Lys226fs	Somatic		WXS	Illumina HiSeq	Phase_IV	B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Frame_Shift_Ins	INS	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	p.I227fs	ENST00000307959.8	37	c.675_676	CCDS14399.1	X																																																																																			ARR3	-	pfam_Arrestin_C-like,superfamily_Ig_E-set		0.465	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ARR3	HGNC	protein_coding	OTTHUMT00000057055.2	-	NM_004312		69497632	+1	no_errors	ENST00000307959	ensembl	human	known	70_37	frame_shift_ins	INS	0.996:1.000	A
B3GNT5	84002	genome.wustl.edu	37	3	182987673	182987674	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr3:182987673_182987674insT	ENST00000326505.3	+	2	617_618	c.87_88insT	c.(88-90)tttfs	p.F30fs	MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000328913.3_Intron|B3GNT5_ENST00000465010.1_Frame_Shift_Ins_p.F30fs|MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000460419.1_Frame_Shift_Ins_p.F30fs	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	30					cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycolipid biosynthetic process (GO:0009247)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity (GO:0008457)|galactosyltransferase activity (GO:0008378)|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256)|lipopolysaccharide N-acetylglucosaminyltransferase activity (GO:0008917)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CGAGCCTCATGTTTTTTTGGGA	0.356																																																	0																																										SO:0001589	frameshift_variant	84002			AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	2.4.1.206	"""Beta 3-glycosyltransferases"""	15684	protein-coding gene	gene with protein product	"""lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase"""	615333				11283017	Standard	XM_005247824		Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.94dupT	3.37:g.182987680_182987680dupT	ENSP00000316173:p.Phe30fs	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	Frame_Shift_Ins	INS	pfam_Glyco_trans_31,superfamily_Luciferase-like_dom	p.W31fs	ENST00000326505.3	37	c.87_88	CCDS3244.1	3																																																																																			B3GNT5	-	NULL		0.356	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT5	HGNC	protein_coding	OTTHUMT00000351009.1	-	NM_032047		182987674	+1	no_errors	ENST00000326505	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.912	T
BAI1	575	genome.wustl.edu	37	8	143558803	143558803	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr8:143558803G>A	ENST00000517894.1	+	6	2174	c.1280G>A	c.(1279-1281)cGt>cAt	p.R427H	BAI1_ENST00000323289.5_Missense_Mutation_p.R427H			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	427	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACCTGTGGCCGTGGCTTTCGG	0.662																																																	0													51.0	61.0	58.0					8																	143558803		2124	4219	6343	SO:0001583	missense	575			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.1280G>A	8.37:g.143558803G>A	ENSP00000430945:p.Arg427His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.R427H	ENST00000517894.1	37	c.1280		8	.	.	.	.	.	.	.	.	.	.	G	32	5.141368	0.94560	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.53206	0.63;0.63	4.27	4.27	0.50696	.	0.073636	0.50627	U	0.000119	T	0.58177	0.2104	L	0.33485	1.01	0.54753	D	0.999988	D	0.89917	1.0	D	0.79784	0.993	T	0.63225	-0.6685	10	0.66056	D	0.02	.	16.0233	0.80516	0.0:0.0:1.0:0.0	.	427	E9PBK0	.	H	427	ENSP00000430945:R427H;ENSP00000313046:R427H	ENSP00000313046:R427H	R	+	2	0	BAI1	143555805	1.000000	0.71417	0.972000	0.41901	0.990000	0.78478	9.561000	0.98142	2.048000	0.60808	0.561000	0.74099	CGT	BAI1	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.662	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	BAI1	HGNC	protein_coding	OTTHUMT00000379963.3	G	NM_001702		143558803	+1	no_errors	ENST00000323289	ensembl	human	known	70_37	missense	SNP	1.000	A
BCLAF1	9774	genome.wustl.edu	37	6	136599059	136599059	+	Silent	SNP	C	C	T			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr6:136599059C>T	ENST00000531224.1	-	4	1212	c.960G>A	c.(958-960)tcG>tcA	p.S320S	BCLAF1_ENST00000527759.1_Silent_p.S318S|BCLAF1_ENST00000392348.2_Silent_p.S318S|BCLAF1_ENST00000353331.4_Silent_p.S318S|BCLAF1_ENST00000527536.1_Silent_p.S320S|BCLAF1_ENST00000530767.1_Silent_p.S320S	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	320					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CAGGATAAAACGAGGAACGGC	0.398																																					Colon(142;1534 1789 5427 7063 28491)												0													92.0	93.0	93.0					6																	136599059		2203	4300	6503	SO:0001819	synonymous_variant	9774			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.960G>A	6.37:g.136599059C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	NULL	p.S320	ENST00000531224.1	37	c.960	CCDS5177.1	6																																																																																			BCLAF1	-	NULL		0.398	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCLAF1	HGNC	protein_coding	OTTHUMT00000042375.2	C	NM_014739		136599059	-1	no_errors	ENST00000531224	ensembl	human	known	70_37	silent	SNP	0.934	T
C17orf70	80233	genome.wustl.edu	37	17	79507882	79507882	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr17:79507882T>C	ENST00000327787.8	-	9	2655	c.2609A>G	c.(2608-2610)tAc>tGc	p.Y870C	C17orf70_ENST00000537152.1_Missense_Mutation_p.Y719C|C17orf70_ENST00000425898.2_Missense_Mutation_p.Y519C			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	870					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CAGCTGCCGGTACACCTGTAG	0.706																																																	0													13.0	13.0	13.0					17																	79507882		2144	4198	6342	SO:0001583	missense	80233			BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 100kDa"""	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.2609A>G	17.37:g.79507882T>C	ENSP00000333283:p.Tyr870Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Missense_Mutation	SNP	NULL	p.Y870C	ENST00000327787.8	37	c.2609	CCDS32765.2	17	.	.	.	.	.	.	.	.	.	.	T	18.05	3.536372	0.65085	.	.	ENSG00000185504	ENST00000327787;ENST00000425898;ENST00000361039;ENST00000537152	T;T;T	0.48201	0.82;0.82;0.82	4.14	4.14	0.48551	.	0.174981	0.38837	N	0.001548	T	0.64114	0.2569	M	0.67953	2.075	0.50039	D	0.999849	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.67476	-0.5661	10	0.87932	D	0	.	10.7643	0.46283	0.0:0.0:0.0:1.0	.	870;519	Q0VG06;E7EVV8	FP100_HUMAN;.	C	870;519;243;719	ENSP00000333283:Y870C;ENSP00000399674:Y519C;ENSP00000440151:Y719C	ENSP00000333283:Y870C	Y	-	2	0	C17orf70	77118357	0.990000	0.36364	0.985000	0.45067	0.837000	0.47467	1.530000	0.36007	1.726000	0.51525	0.482000	0.46254	TAC	C17orf70	-	NULL		0.706	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf70	HGNC	protein_coding	OTTHUMT00000396170.1	T	NM_025161		79507882	-1	no_errors	ENST00000327787	ensembl	human	known	70_37	missense	SNP	0.968	C
C3orf49	132200	genome.wustl.edu	37	3	63816799	63816800	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr3:63816799_63816800insA	ENST00000295896.8	+	4	694_695	c.584_585insA	c.(583-588)ccaaaafs	p.PK195fs				Q96BT1	CC049_HUMAN	chromosome 3 open reading frame 49	195								p.P195Q(1)		breast(2)	2						CCATATTCACCAAAAAAGAGAC	0.386																																																	1	Substitution - Missense(1)	breast(1)																																								SO:0001589	frameshift_variant	132200			BC015210		3p14.1	2013-01-15			ENSG00000163632	ENSG00000163632			25190	other	unknown						12477932	Standard	NR_026866		Approved		uc003dls.4	Q96BT1	OTTHUMG00000158761	ENST00000295896.8:c.590dupA	3.37:g.63816805_63816805dupA	ENSP00000295896:p.Pro195fs	Somatic		WXS	Illumina HiSeq	Phase_IV		Frame_Shift_Ins	INS	NULL	p.R198fs	ENST00000295896.8	37	c.584_585		3																																																																																			C3orf49	-	NULL		0.386	C3orf49-001	KNOWN	basic|appris_principal	protein_coding	C3orf49	HGNC	protein_coding	OTTHUMT00000352067.1	-	NR_026866		63816800	+1	no_errors	ENST00000295896	ensembl	human	known	70_37	frame_shift_ins	INS	0.982:0.981	A
ZBED8	63920	genome.wustl.edu	37	5	159820772	159820773	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr5:159820772_159820773insT	ENST00000408953.3	-	2	2232_2233	c.1725_1726insA	c.(1723-1728)aaagttfs	p.V576fs	C5orf54_ENST00000523213.1_Frame_Shift_Ins_p.V576fs	NM_022090.3	NP_071373.2														breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						aaacgaggaactttttttgaaa	0.342																																																	0																																										SO:0001589	frameshift_variant	63920																														ENST00000408953.3:c.1726dupA	5.37:g.159820779_159820779dupT	ENSP00000386184:p.Val576fs	Somatic		WXS	Illumina HiSeq	Phase_IV		Frame_Shift_Ins	INS	superfamily_RNaseH-like_dom	p.V575fs	ENST00000408953.3	37	c.1726_1725	CCDS34283.1	5																																																																																			C5orf54	-	NULL		0.342	C5orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf54	HGNC	protein_coding	OTTHUMT00000374143.1	-			159820773	-1	no_errors	ENST00000408953	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T
CCDC74B	91409	genome.wustl.edu	37	2	130899903	130899903	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr2:130899903C>T	ENST00000310463.6	-	3	484	c.347G>A	c.(346-348)cGc>cAc	p.R116H	CCDC74B_ENST00000392984.3_Missense_Mutation_p.R218H|CCDC74B_ENST00000409943.3_Intron|CCDC74B_ENST00000409128.1_Intron|MED15P9_ENST00000427638.1_RNA	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	116										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GCAGACCCAGCGAGCGCCCAA	0.642																																																	0													10.0	13.0	12.0					2																	130899903		2172	4238	6410	SO:0001583	missense	91409				CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.347G>A	2.37:g.130899903C>T	ENSP00000308873:p.Arg116His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NW18	Missense_Mutation	SNP	NULL	p.R218H	ENST00000310463.6	37	c.653	CCDS2155.1	2	.	.	.	.	.	.	.	.	.	.	.	11.06	1.528347	0.27299	.	.	ENSG00000152076	ENST00000310463;ENST00000392984	T;T	0.27890	1.82;1.64	1.54	0.56	0.17279	.	654.833000	0.00789	U	0.001320	T	0.12603	0.0306	N	0.08118	0	0.09310	N	1	B;D	0.60160	0.0;0.987	B;B	0.32022	0.0;0.139	T	0.17684	-1.0361	10	0.45353	T	0.12	.	3.9873	0.09521	0.0:0.7484:0.0:0.2516	.	218;116	E7ESC5;Q96LY2	.;CC74B_HUMAN	H	116;218	ENSP00000308873:R116H;ENSP00000376710:R218H	ENSP00000308873:R116H	R	-	2	0	CCDC74B	130616373	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.208000	0.09371	-0.013000	0.14199	0.454000	0.30748	CGC	CCDC74B	-	NULL		0.642	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC74B	HGNC	protein_coding	OTTHUMT00000254522.3	C	NM_207310		130899903	-1	no_errors	ENST00000392984	ensembl	human	known	70_37	missense	SNP	0.001	T
CCDC74A	90557	genome.wustl.edu	37	2	132288203	132288203	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr2:132288203G>A	ENST00000295171.6	+	3	485	c.347G>A	c.(346-348)cGc>cAc	p.R116H	CCDC74A_ENST00000409856.3_Intron|CCDC74A_ENST00000467992.2_Missense_Mutation_p.R218H	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	116										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TTGGGCGCTCGCTGGGTCTGC	0.647																																																	0													10.0	17.0	14.0					2																	132288203		2137	4238	6375	SO:0001583	missense	90557				CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.347G>A	2.37:g.132288203G>A	ENSP00000295171:p.Arg116His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P4I5	Missense_Mutation	SNP	NULL	p.R116H	ENST00000295171.6	37	c.347	CCDS2167.1	2	.	.	.	.	.	.	.	.	.	.	.	8.248	0.808460	0.16467	.	.	ENSG00000163040	ENST00000295171;ENST00000467992	T;T	0.60040	1.82;0.22	1.57	-3.14	0.05250	.	5.027120	0.01532	U	0.018845	T	0.43033	0.1229	N	0.08118	0	0.09310	N	1	D	0.63880	0.993	P	0.50970	0.655	T	0.28459	-1.0043	10	0.49607	T	0.09	.	3.3461	0.07136	0.0:0.2752:0.3857:0.3391	.	116	Q96AQ1	CC74A_HUMAN	H	116;218	ENSP00000295171:R116H;ENSP00000444610:R218H	ENSP00000295171:R116H	R	+	2	0	CCDC74A	132004673	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.018000	0.12568	-1.037000	0.03283	0.194000	0.17425	CGC	CCDC74A	-	NULL		0.647	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC74A	HGNC	protein_coding	OTTHUMT00000254570.2	G	NM_138770		132288203	+1	no_errors	ENST00000295171	ensembl	human	known	70_37	missense	SNP	0.000	A
CDK5RAP1	51654	genome.wustl.edu	37	20	31984665	31984665	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr20:31984665A>T	ENST00000357886.4	-	2	359	c.206T>A	c.(205-207)tTa>tAa	p.L69*	CDK5RAP1_ENST00000544843.1_Nonsense_Mutation_p.L69*|CDK5RAP1_ENST00000477105.1_Intron|CDK5RAP1_ENST00000339269.5_Nonsense_Mutation_p.L69*|CDK5RAP1_ENST00000346416.2_Nonsense_Mutation_p.L69*|CDK5RAP1_ENST00000473997.1_5'UTR			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	69	CDK5 activation inhibition.				brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GGCACTTTTTAAAAAATGTTG	0.502																																																	0													93.0	95.0	94.0					20																	31984665		2203	4300	6503	SO:0001587	stop_gained	51654			AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.206T>A	20.37:g.31984665A>T	ENSP00000350558:p.Leu69*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Nonsense_Mutation	SNP	pfam_rSAM,pfam_Methylthiotransferase_N,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB_methiolase,tigrfam_Methylthiotransferase	p.L69*	ENST00000357886.4	37	c.206		20	.	.	.	.	.	.	.	.	.	.	A	37	6.111396	0.97291	.	.	ENSG00000101391	ENST00000346416;ENST00000357886;ENST00000339269;ENST00000544843	.	.	.	5.42	5.42	0.78866	.	0.061993	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3795	11.7722	0.51965	1.0:0.0:0.0:0.0	.	.	.	.	X	69	.	ENSP00000341840:L69X	L	-	2	0	CDK5RAP1	31448326	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	4.325000	0.59234	2.279000	0.76181	0.402000	0.26972	TTA	CDK5RAP1	-	NULL		0.502	CDK5RAP1-011	KNOWN	basic	protein_coding	CDK5RAP1	HGNC	protein_coding	OTTHUMT00000078697.1	A	NM_016408		31984665	-1	no_errors	ENST00000357886	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CHD7	55636	genome.wustl.edu	37	8	61769043	61769043	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr8:61769043A>G	ENST00000423902.2	+	34	7683	c.7204A>G	c.(7204-7206)Agg>Ggg	p.R2402G	CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2402	Poly-Arg.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCAGCGGAGGAGGAGGAGGAG	0.507																																																	0													30.0	30.0	30.0					8																	61769043		1876	4099	5975	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.7204A>G	8.37:g.61769043A>G	ENSP00000392028:p.Arg2402Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R2402G	ENST00000423902.2	37	c.7204	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	A	19.12	3.766238	0.69878	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.48201	0.82	5.74	3.52	0.40303	.	0.000000	0.85682	D	0.000000	T	0.46367	0.1389	L	0.50333	1.59	0.41503	D	0.988299	P	0.51791	0.948	P	0.46975	0.533	T	0.30563	-0.9974	10	0.25751	T	0.34	-20.4381	13.4077	0.60924	0.4589:0.5411:0.0:0.0	.	2402	Q9P2D1	CHD7_HUMAN	G	2402	ENSP00000392028:R2402G	ENSP00000307304:R2402G	R	+	1	2	CHD7	61931597	1.000000	0.71417	0.993000	0.49108	0.967000	0.64934	1.631000	0.37092	0.533000	0.28675	0.460000	0.39030	AGG	CHD7	-	NULL		0.507	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	A	XM_098762		61769043	+1	no_errors	ENST00000307121	ensembl	human	known	70_37	missense	SNP	1.000	G
CHD8	57680	genome.wustl.edu	37	14	21897286	21897287	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr14:21897286_21897287insT	ENST00000557364.1	-	3	1314_1315	c.1051_1052insA	c.(1051-1053)atcfs	p.I351fs	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Frame_Shift_Ins_p.I72fs|CHD8_ENST00000399982.2_Frame_Shift_Ins_p.I351fs|RN7SL650P_ENST00000583681.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	351	Gln-rich.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TACAATCTGGATTTTTTGCTGT	0.574																																																	0																																										SO:0001589	frameshift_variant	57680			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.1052dupA	14.37:g.21897292_21897292dupT	ENSP00000451601:p.Ile351fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Frame_Shift_Ins	INS	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.I351fs	ENST00000557364.1	37	c.1052_1051	CCDS53885.1	14																																																																																			CHD8	-	NULL		0.574	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	-	NM_020920		21897287	-1	no_errors	ENST00000399982	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.998	T
CLASRP	11129	genome.wustl.edu	37	19	45570740	45570745	+	In_Frame_Del	DEL	AGCCAG	AGCCAG	-	rs532163167|rs566205384|rs375251030	byFrequency	TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	AGCCAG	AGCCAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr19:45570740_45570745delAGCCAG	ENST00000221455.3	+	14	1653_1658	c.1555_1560delAGCCAG	c.(1555-1560)agccagdel	p.SQ519del	CLASRP_ENST00000391953.4_In_Frame_Del_p.SQ457del|CLASRP_ENST00000544944.2_In_Frame_Del_p.SQ519del	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	519	Arg-rich.|Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						ccccagccccagccagagccgcagcc	0.723																																																	0																																										SO:0001651	inframe_deletion	11129			AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.1555_1560delAGCCAG	19.37:g.45570740_45570745delAGCCAG	ENSP00000221455:p.Ser519_Gln520del	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	In_Frame_Del	DEL	pfam_SWAP_N_domain	p.QS520in_frame_del	ENST00000221455.3	37	c.1555_1560	CCDS12652.2	19																																																																																			CLASRP	-	NULL		0.723	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLASRP	HGNC	protein_coding	OTTHUMT00000316749.1	AGCCAG	NM_007056		45570745	+1	no_errors	ENST00000221455	ensembl	human	known	70_37	in_frame_del	DEL	0.016:0.023:0.005:0.002:0.000:0.001	-
CLCNKA	1187	genome.wustl.edu	37	1	16356551	16356552	+	Frame_Shift_Ins	INS	-	-	G	rs141107527		TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr1:16356551_16356552insG	ENST00000331433.4	+	14	1408_1409	c.1389_1390insG	c.(1390-1392)gggfs	p.G464fs	CLCNKA_ENST00000375692.1_Frame_Shift_Ins_p.G464fs|CLCNKA_ENST00000439316.2_Frame_Shift_Ins_p.G421fs|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Frame_Shift_Ins_p.G464fs			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	464					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)	p.Y466fs*25(1)		breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CCATCATGCCCGGGGGGTATGC	0.653																																																	1	Insertion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	1187				CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1395dupG	1.37:g.16356557_16356557dupG	ENSP00000332771:p.Gly464fs	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Frame_Shift_Ins	INS	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K	p.Y465fs	ENST00000331433.4	37	c.1389_1390	CCDS167.1	1																																																																																			CLCNKA	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated		0.653	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCNKA	HGNC	protein_coding	OTTHUMT00000026326.1	-			16356552	+1	no_errors	ENST00000331433	ensembl	human	known	70_37	frame_shift_ins	INS	0.169:0.840	G
CLCC1	23155	genome.wustl.edu	37	1	109479990	109479990	+	Silent	SNP	G	G	A			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr1:109479990G>A	ENST00000369971.2	-	10	1221	c.1092C>T	c.(1090-1092)ggC>ggT	p.G364G	CLCC1_ENST00000369969.2_Silent_p.G243G|CLCC1_ENST00000348264.2_Silent_p.G179G|CLCC1_ENST00000369970.3_Silent_p.G314G|CLCC1_ENST00000415331.1_Silent_p.G314G|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000369968.2_Silent_p.G179G|CLCC1_ENST00000302500.4_Silent_p.G243G|CLCC1_ENST00000356970.2_Silent_p.G364G|CLCC1_ENST00000369976.1_Intron|AKNAD1_ENST00000357393.4_Intron	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	364						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		TCTCAGGACCGCCTATATGTC	0.478																																																	0													62.0	65.0	64.0					1																	109479990		2203	4300	6503	SO:0001819	synonymous_variant	23155			AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"""Mid1-related chloride channel (yeast)"""					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.1092C>T	1.37:g.109479990G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O94861|Q8WYP8|Q8WYP9|Q9BU25	Silent	SNP	pfam_Chloride_chnl_CLIC-like	p.G364	ENST00000369971.2	37	c.1092	CCDS41362.1	1																																																																																			CLCC1	-	pfam_Chloride_chnl_CLIC-like		0.478	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCC1	HGNC	protein_coding	OTTHUMT00000032405.1	G	NM_015127		109479990	-1	no_errors	ENST00000356970	ensembl	human	known	70_37	silent	SNP	0.032	A
CNNM1	26507	genome.wustl.edu	37	10	101089223	101089223	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr10:101089223C>T	ENST00000356713.4	+	1	368	c.79C>T	c.(79-81)Ctc>Ttc	p.L27F	CNNM1_ENST00000370534.4_5'Flank|CNNM1_ENST00000370528.3_Missense_Mutation_p.L27F|CNNM1_ENST00000446890.1_Missense_Mutation_p.L27F	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	27					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		TGTGCTCCTGCTCTTCTTTTC	0.756																																																	0													3.0	4.0	4.0					10																	101089223		1453	2987	4440	SO:0001583	missense	26507			AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.79C>T	10.37:g.101089223C>T	ENSP00000349147:p.Leu27Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	pfam_DUF21,pfam_Cysta_beta_synth_core	p.L27F	ENST00000356713.4	37	c.79	CCDS7478.2	10	.	.	.	.	.	.	.	.	.	.	C	14.63	2.594181	0.46214	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528	D;D;D	0.90444	-2.19;-2.67;-2.61	4.0	4.0	0.46444	.	.	.	.	.	D	0.89448	0.6718	N	0.08118	0	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.986	D	0.91769	0.5426	9	0.66056	D	0.02	-3.7528	15.0403	0.71785	0.0:1.0:0.0:0.0	.	27;27	Q9NRU3-2;Q9NRU3	.;CNNM1_HUMAN	F	27	ENSP00000349147:L27F;ENSP00000406492:L27F;ENSP00000359559:L27F	ENSP00000349147:L27F	L	+	1	0	CNNM1	101079213	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	4.009000	0.57110	2.073000	0.62155	0.462000	0.41574	CTC	CNNM1	-	NULL		0.756	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNNM1	HGNC	protein_coding	OTTHUMT00000049792.2	C	NM_020348		101089223	+1	no_errors	ENST00000356713	ensembl	human	known	70_37	missense	SNP	1.000	T
COG5	10466	genome.wustl.edu	37	7	107167783	107167783	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr7:107167783C>T	ENST00000347053.3	-	6	580	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	COG5_ENST00000475638.2_5'UTR|COG5_ENST00000393603.2_Missense_Mutation_p.R177Q|COG5_ENST00000297135.3_Missense_Mutation_p.R177Q	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	177					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						AATAATCCTCCGAAGCAAATC	0.378																																																	0													88.0	82.0	84.0					7																	107167783		2203	4300	6503	SO:0001583	missense	10466			AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.530G>A	7.37:g.107167783C>T	ENSP00000334703:p.Arg177Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	pfam_COG_su5,pfam_Vps51	p.R177Q	ENST00000347053.3	37	c.530	CCDS5743.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.198641	0.94997	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.37752	1.3;1.22;1.18	5.47	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.60117	0.2244	M	0.73962	2.25	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64676	-0.6351	10	0.59425	D	0.04	-13.4999	14.7538	0.69549	0.0:0.9299:0.0:0.0701	.	177;177	Q9UP83;Q9UP83-2	COG5_HUMAN;.	Q	177	ENSP00000334703:R177Q;ENSP00000297135:R177Q;ENSP00000377228:R177Q	ENSP00000297135:R177Q	R	-	2	0	COG5	106955019	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.445000	0.80570	1.441000	0.47550	0.650000	0.86243	CGG	COG5	-	pfam_COG_su5		0.378	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COG5	HGNC	protein_coding	OTTHUMT00000060216.4	C			107167783	-1	no_errors	ENST00000297135	ensembl	human	known	70_37	missense	SNP	1.000	T
CPSF1	29894	genome.wustl.edu	37	8	145625874	145625874	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr8:145625874G>A	ENST00000349769.3	-	8	794	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	234					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GTGTCCTGCCGCACGGCCACG	0.672																																					NSCLC(133;1088 1848 27708 34777 35269)												0													79.0	78.0	78.0					8																	145625874		2203	4300	6503	SO:0001583	missense	29894			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.700C>T	8.37:g.145625874G>A	ENSP00000339353:p.Arg234Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96AF0	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.R234W	ENST00000349769.3	37	c.700	CCDS34966.1	8	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447624	0.43429	.	.	ENSG00000071894	ENST00000349769	T	0.25912	1.77	5.68	1.34	0.21922	.	0.000000	0.85682	D	0.000000	T	0.51975	0.1706	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.975;1.0;0.999	T	0.58668	-0.7596	10	0.87932	D	0	-10.1027	15.6241	0.76840	0.0:0.0:0.6926:0.3074	.	234;156;234	B4DEF4;D3DWL9;Q10570	.;.;CPSF1_HUMAN	W	234	ENSP00000339353:R234W	ENSP00000339353:R234W	R	-	1	2	CPSF1	145596682	1.000000	0.71417	0.995000	0.50966	0.064000	0.16182	1.941000	0.40233	-0.052000	0.13311	-0.271000	0.10264	CGG	CPSF1	-	NULL		0.672	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	G	NM_013291		145625874	-1	no_errors	ENST00000349769	ensembl	human	known	70_37	missense	SNP	1.000	A
CRB1	23418	genome.wustl.edu	37	1	197313486	197313487	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr1:197313486_197313487insG	ENST00000367400.3	+	3	863_864	c.728_729insG	c.(727-732)ctggggfs	p.LG243fs	CRB1_ENST00000538660.1_Frame_Shift_Ins_p.LG243fs|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000543483.1_5'UTR|CRB1_ENST00000535699.1_Frame_Shift_Ins_p.LG174fs	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	243	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CAGGATGCTCTGGGGGCCTATT	0.475																																																	0																																										SO:0001589	frameshift_variant	23418				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.733dupG	1.37:g.197313491_197313491dupG	ENSP00000356370:p.Leu243fs	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Frame_Shift_Ins	INS	pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.A245fs	ENST00000367400.3	37	c.728_729	CCDS1390.1	1																																																																																			CRB1	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.475	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB1	HGNC	protein_coding	OTTHUMT00000086565.2	-	NM_201253		197313487	+1	no_errors	ENST00000367400	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.000	G
GOLGA7B	401647	genome.wustl.edu	37	10	99625445	99625445	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr10:99625445delG	ENST00000370602.1	+	5	557	c.492delG	c.(490-492)gcgfs	p.A164fs	CRTAC1_ENST00000298819.4_Frame_Shift_Del_p.P601fs|GOLGA7B_ENST00000596005.1_5'Flank|CRTAC1_ENST00000370597.3_Frame_Shift_Del_p.R616fs	NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN	golgin A7 family, member B	164	Poly-Gly.					Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|prostate(1)	5						GTGGTGGGGCGGGGGCCCGGT	0.682																																																	0													10.0	10.0	10.0					10																	99625445		2189	4280	6469	SO:0001589	frameshift_variant	55118			BC008047	CCDS31265.1	10q24.2	2011-10-25	2010-02-12	2008-10-03	ENSG00000155265	ENSG00000155265			31668	protein-coding gene	gene with protein product		614189	"""chromosome 10 open reading frame 133"", ""chromosome 10 open reading frame 132"", ""golgi autoantigen, golgin subfamily a, 7B"""	C10orf133, C10orf132			Standard	NM_001010917		Approved	bA459F3.4, bA451M19.3	uc001kos.3	Q2TAP0	OTTHUMG00000018869	ENST00000370602.1:c.492delG	10.37:g.99625445delG	ENSP00000359634:p.Ala164fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T4F5	Frame_Shift_Del	DEL	pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd	p.R616fs	ENST00000370602.1	37	c.1846	CCDS31265.1	10																																																																																			CRTAC1	-	NULL		0.682	GOLGA7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRTAC1	HGNC	protein_coding	OTTHUMT00000049752.1	G	NM_001010917		99625445	-1	no_errors	ENST00000370597	ensembl	human	known	70_37	frame_shift_del	DEL	0.838	-
DAAM2	23500	genome.wustl.edu	37	6	39846355	39846355	+	Silent	SNP	T	T	C			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr6:39846355T>C	ENST00000398904.2	+	13	1718	c.1536T>C	c.(1534-1536)agT>agC	p.S512S	DAAM2_ENST00000274867.4_Silent_p.S512S|DAAM2_ENST00000538976.1_Silent_p.S512S			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	512					actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCCAGCTCAGTGAACTCTCAG	0.597																																																	0													29.0	33.0	32.0					6																	39846355		1987	4163	6150	SO:0001819	synonymous_variant	23500			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1536T>C	6.37:g.39846355T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Silent	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.S512	ENST00000398904.2	37	c.1536	CCDS56426.1	6																																																																																			DAAM2	-	NULL		0.597	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DAAM2	HGNC	protein_coding	OTTHUMT00000280648.1	T			39846355	+1	no_errors	ENST00000274867	ensembl	human	known	70_37	silent	SNP	0.983	C
DDX60L	91351	genome.wustl.edu	37	4	169317264	169317264	+	Frame_Shift_Del	DEL	T	T	-	rs528386777	byFrequency	TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr4:169317264delT	ENST00000511577.1	-	27	3750	c.3503delA	c.(3502-3504)aacfs	p.N1168fs	DDX60L_ENST00000260184.7_Frame_Shift_Del_p.N1168fs|DDX60L_ENST00000505890.1_Frame_Shift_Del_p.N1169fs			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1168							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CTTCTTTGGGTTTTTTTTAGT	0.323																																																	0													32.0	29.0	30.0					4																	169317264		1775	4037	5812	SO:0001589	frameshift_variant	91351			AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.3503delA	4.37:g.169317264delT	ENSP00000422423:p.Asn1168fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96ND6	Frame_Shift_Del	DEL	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.N1168fs	ENST00000511577.1	37	c.3503		4																																																																																			DDX60L	-	NULL		0.323	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	DDX60L	HGNC	protein_coding	OTTHUMT00000364839.1	T	NM_001012967		169317264	-1	no_errors	ENST00000260184	ensembl	human	known	70_37	frame_shift_del	DEL	0.000	-
DLGAP3	58512	genome.wustl.edu	37	1	35370731	35370731	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr1:35370731delC	ENST00000373347.1	-	3	522	c.254delG	c.(253-255)ggtfs	p.G85fs	DLGAP3_ENST00000495979.1_5'Flank|DLGAP3_ENST00000235180.4_Frame_Shift_Del_p.G85fs			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	85					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GGTGCTGCTACCCCCCCCAAC	0.701																																																	0										57,65,4026		1,0,55,2,61,1955	10.0	11.0	11.0			-4.8	1.0	1		11	88,98,7860		2,0,84,1,96,3840	no	codingComplex	DLGAP3	NM_001080418.1		3,0,139,3,157,5795	A1A1,A1A2,A1R,A2A2,A2R,RR		2.3117,2.9412,2.5258			35370731	145,163,11886	2178	4247	6425	SO:0001589	frameshift_variant	58512			AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.254delG	1.37:g.35370731delC	ENSP00000362444:p.Gly85fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TDD5|Q9H3X7	Frame_Shift_Del	DEL	pfam_GKAP	p.G85fs	ENST00000373347.1	37	c.254	CCDS30670.1	1																																																																																			DLGAP3	-	NULL		0.701	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP3	HGNC	protein_coding	OTTHUMT00000011554.1	C	NM_021234		35370731	-1	no_errors	ENST00000235180	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
DYNC1LI1	51143	genome.wustl.edu	37	3	32571049	32571050	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr3:32571049_32571050insT	ENST00000273130.4	-	11	1391_1392	c.1288_1289insA	c.(1288-1290)attfs	p.I430fs	DYNC1LI1_ENST00000432458.2_Frame_Shift_Ins_p.I314fs	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	430					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						GTTTGGATCAATTTTTTTTGAC	0.401																																																	0																																										SO:0001589	frameshift_variant	51143			AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"""Cytoplasmic dyneins"""	18745	protein-coding gene	gene with protein product		615890	"""dynein, cytoplasmic, light intermediate polypeptide 1"""	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.1289dupA	3.37:g.32571057_32571057dupT	ENSP00000273130:p.Ile430fs	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRG7|Q53HC8|Q53HK7	Frame_Shift_Ins	INS	pfam_Dynein_light_int_chain	p.I430fs	ENST00000273130.4	37	c.1289_1288	CCDS2654.1	3																																																																																			DYNC1LI1	-	pfam_Dynein_light_int_chain		0.401	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1LI1	HGNC	protein_coding	OTTHUMT00000253250.1	-	NM_016141		32571050	-1	no_errors	ENST00000273130	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T
LOC101927542	101927542	genome.wustl.edu	37	1	83912273	83912273	+	lincRNA	DEL	A	A	-			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr1:83912273delA	ENST00000446227.1	+	0	538																											GGTGGGAGAGAAAAAAAAACA	0.398																																																	0																																												0																															1.37:g.83912273delA		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	DEL	-	NULL	ENST00000446227.1	37	NULL		1																																																																																			RP11-413G15.1	-	-		0.398	RP11-413G15.1-001	KNOWN	basic	lincRNA	ENSG00000231364	Clone_based_vega_gene	lincRNA	OTTHUMT00000026942.1	A			83912273	+1	no_errors	ENST00000446227	ensembl	human	known	70_37	rna	DEL	0.000	-
ENAH	55740	genome.wustl.edu	37	1	225702424	225702424	+	Silent	SNP	A	A	T			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr1:225702424A>T	ENST00000366844.3	-	7	1543	c.1092T>A	c.(1090-1092)ccT>ccA	p.P364P	ENAH_ENST00000284563.6_Silent_p.P611P|ENAH_ENST00000366843.2_Silent_p.P364P	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	364	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		gaggtggtggaggaggagggg	0.627																																																	0													18.0	19.0	19.0					1																	225702424		2164	4205	6369	SO:0001819	synonymous_variant	55740			AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"""mammalian enabled"""	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.1092T>A	1.37:g.225702424A>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Silent	SNP	pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1	p.P364	ENST00000366844.3	37	c.1092	CCDS31041.1	1																																																																																			ENAH	-	NULL		0.627	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENAH	HGNC	protein_coding	OTTHUMT00000357426.2	A	NM_018212		225702424	-1	no_errors	ENST00000366844	ensembl	human	known	70_37	silent	SNP	0.036	T
CFAP99	402160	genome.wustl.edu	37	4	2461960	2461961	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr4:2461960_2461961insG	ENST00000506607.1	+	7	890_891	c.887_888insG	c.(886-891)gcagccfs	p.A297fs																								GGGAGATCCGCAGCCTTGAGGT	0.599																																																	0																																										SO:0001589	frameshift_variant	0																														Exception_encountered	4.37:g.2461960_2461961insG	ENSP00000425050:p.Ala297fs	Somatic		WXS	Illumina HiSeq	Phase_IV		Frame_Shift_Ins	INS	NULL	p.A297fs	ENST00000506607.1	37	c.887_888		4																																																																																			RP11-503N18.3	-	NULL		0.599	RP11-503N18.3-001	PUTATIVE	basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	ENSG00000249428	Clone_based_vega_gene	protein_coding	OTTHUMT00000360915.3	-			2461961	+1	no_errors	ENST00000506607	ensembl	human	putative	70_37	frame_shift_ins	INS	0.856:0.018	G
RP11-536C10.4	0	genome.wustl.edu	37	14	19339542	19339542	+	RNA	DEL	A	A	-	rs374943822		TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr14:19339542delA	ENST00000552261.1	-	0	52																											AAGCACTCTCAAAAAAAAACA	0.343																																																	0																																												0																															14.37:g.19339542delA		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	DEL	-	NULL	ENST00000552261.1	37	NULL		14																																																																																			RP11-536C10.3	-	-		0.343	RP11-536C10.4-001	KNOWN	basic	antisense	ENSG00000258367	Clone_based_vega_gene	antisense	OTTHUMT00000408397.1	A			19339542	+1	no_errors	ENST00000550098	ensembl	human	known	70_37	rna	DEL	0.951	-
LOC101927079	101927079	genome.wustl.edu	37	15	22332412	22332413	+	RNA	INS	-	-	A	rs373011460		TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr15:22332412_22332413insA	ENST00000558896.1	+	0	219_220																											TTGGCTTGATGAAAAAAAACAA	0.322																																																	0																																												0																															15.37:g.22332420_22332420dupA		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	INS	-	NULL	ENST00000558896.1	37	NULL		15																																																																																			RP11-69H14.6	-	-		0.322	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	ENSG00000259176	Clone_based_vega_gene	sense_overlapping	OTTHUMT00000417625.1	-			22332413	+1	no_errors	ENST00000558896	ensembl	human	known	70_37	rna	INS	0.686:0.693	A
ENTHD2	146705	genome.wustl.edu	37	17	79202813	79202813	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr17:79202813C>T	ENST00000300714.3	-	12	1550	c.1493G>A	c.(1492-1494)cGc>cAc	p.R498H	AC027601.1_ENST00000569559.1_RNA|ENTHD2_ENST00000374769.2_Missense_Mutation_p.R414H|AC027601.1_ENST00000575922.1_RNA	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	498						cytoplasmic vesicle (GO:0031410)											TTGGGGGGCGCGGGGAGCATC	0.672																																																	0													34.0	39.0	37.0					17																	79202813		2203	4300	6503	SO:0001583	missense	146705			AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 56"""	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.1493G>A	17.37:g.79202813C>T	ENSP00000300714:p.Arg498His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZQU0|Q6ZSQ9	Missense_Mutation	SNP	pfam_Epsin_dom_N,superfamily_ENTH_VHS	p.R498H	ENST00000300714.3	37	c.1493	CCDS11779.1	17	.	.	.	.	.	.	.	.	.	.	C	9.471	1.095619	0.20471	.	.	ENSG00000167302	ENST00000300714;ENST00000374769	T;T	0.75260	-0.92;-0.92	4.12	-2.97	0.05530	.	3.951780	0.00575	N	0.000317	T	0.54287	0.1849	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43925	-0.9361	10	0.44086	T	0.13	-0.2544	6.729	0.23373	0.0:0.4399:0.2873:0.2727	.	498;414	Q96N21;Q96N21-2	CQ056_HUMAN;.	H	498;414	ENSP00000300714:R498H;ENSP00000363901:R414H	ENSP00000300714:R498H	R	-	2	0	C17orf56	76817408	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.246000	0.08878	-1.301000	0.02338	-1.284000	0.01376	CGC	ENTHD2	-	NULL		0.672	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD2	HGNC	protein_coding	OTTHUMT00000439315.1	C	NM_144679		79202813	-1	no_errors	ENST00000300714	ensembl	human	known	70_37	missense	SNP	0.000	T
EPN1	29924	genome.wustl.edu	37	19	56206237	56206237	+	Silent	SNP	G	G	A			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr19:56206237G>A	ENST00000270460.6	+	10	1721	c.1410G>A	c.(1408-1410)acG>acA	p.T470T	EPN1_ENST00000085079.7_Silent_p.T444T|EPN1_ENST00000411543.2_Silent_p.T556T|AC010525.4_ENST00000585559.1_RNA|AC010525.7_ENST00000589698.1_lincRNA|AC010525.6_ENST00000587937.1_lincRNA	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	470	Ala/Gly/Pro-rich.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CCCGGAAGACGCCGGAGTCAT	0.701																																																	0													19.0	30.0	26.0					19																	56206237		2090	4203	6293	SO:0001819	synonymous_variant	29924			AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.1410G>A	19.37:g.56206237G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q86ST3|Q9HA18	Silent	SNP	pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif	p.T556	ENST00000270460.6	37	c.1668	CCDS46199.1	19																																																																																			EPN1	-	NULL		0.701	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EPN1	HGNC	protein_coding	OTTHUMT00000453610.1	G	NM_013333		56206237	+1	no_errors	ENST00000411543	ensembl	human	known	70_37	silent	SNP	0.168	A
FAF1	11124	genome.wustl.edu	37	1	50956315	50956316	+	Frame_Shift_Ins	INS	-	-	TC	rs200550139		TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr1:50956315_50956316insTC	ENST00000396153.2	-	17	2048_2049	c.1597_1598insGA	c.(1597-1599)atgfs	p.M533fs	FAF1_ENST00000545823.1_Frame_Shift_Ins_p.M291fs|FAF1_ENST00000371778.4_Frame_Shift_Ins_p.M533fs	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	533					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CTGTTCTGCCATCTCTCTCTCG	0.381																																																	0																																										SO:0001589	frameshift_variant	11124			AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.1596_1597dupGA	1.37:g.50956324_50956325dupTC	ENSP00000379457:p.Met533fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Frame_Shift_Ins	INS	pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX	p.M533fs	ENST00000396153.2	37	c.1598_1597	CCDS554.1	1																																																																																			FAF1	-	NULL		0.381	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAF1	HGNC	protein_coding	OTTHUMT00000021807.1	-	NM_007051		50956316	-1	no_errors	ENST00000371778	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	TC
FAM186A	121006	genome.wustl.edu	37	12	50747820	50747821	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr12:50747820_50747821insT	ENST00000327337.5	-	4	2793_2794	c.2794_2795insA	c.(2794-2796)atgfs	p.M932fs	FAM186A_ENST00000543111.1_Frame_Shift_Ins_p.M932fs	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	932																	TTGTGTTTTCATTTTTTGGGTC	0.49																																					NSCLC(138;1796 1887 12511 19463 37884)												0																																										SO:0001589	frameshift_variant	121006				CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.2795dupA	12.37:g.50747826_50747826dupT	ENSP00000329995:p.Met932fs	Somatic		WXS	Illumina HiSeq	Phase_IV		Frame_Shift_Ins	INS	NULL	p.M932fs	ENST00000327337.5	37	c.2795_2794	CCDS44878.1	12																																																																																			FAM186A	-	NULL		0.490	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM186A	HGNC	protein_coding	OTTHUMT00000396838.1	-	XM_001718353		50747821	-1	no_errors	ENST00000327337	ensembl	human	known	70_37	frame_shift_ins	INS	0.110:0.106	T
FBXO11	80204	genome.wustl.edu	37	2	48061746	48061747	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr2:48061746_48061747insAT	ENST00000403359.3	-	7	977_978	c.905_906insAT	c.(904-906)attfs	p.I302fs	FBXO11_ENST00000316377.4_Frame_Shift_Ins_p.I218fs|FBXO11_ENST00000434523.2_5'Flank|FBXO11_ENST00000402508.1_Frame_Shift_Ins_p.I218fs|FBXO11_ENST00000480038.1_5'Flank	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	302					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTGGAGATTCAATATATATCCA	0.307			"""Mis, F, D"""		DLBCL																																			Rec	yes		2	2p16.3	80204	F-box protein 11		L	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)																																								SO:0001589	frameshift_variant	80204			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.904_905dupAT	2.37:g.48061753_48061754dupAT	ENSP00000384823:p.Ile302fs	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Frame_Shift_Ins	INS	pfam_Znf_N-recognin,pfam_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom_cyclin-like,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2	p.E303fs	ENST00000403359.3	37	c.906_905	CCDS54357.1	2																																																																																			FBXO11	-	superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like		0.307	FBXO11-001	KNOWN	basic|CCDS	protein_coding	FBXO11	HGNC	protein_coding	OTTHUMT00000251181.3	-	NM_012167, NM_018693, NM_025133		48061747	-1	no_errors	ENST00000403359	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	AT
MACROD1	28992	genome.wustl.edu	37	11	63885113	63885113	+	Intron	SNP	G	G	A			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr11:63885113G>A	ENST00000255681.6	-	3	584				FLRT1_ENST00000246841.3_Silent_p.T458T|RP11-21A7A.3_ENST00000543817.1_RNA	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.T458T(1)		breast(1)|large_intestine(3)|lung(6)|skin(1)	11						GGAAGGCCACGCTCCCCGCCT	0.652																																																	1	Substitution - coding silent(1)	prostate(1)											37.0	36.0	36.0					11																	63885113		2200	4297	6497	SO:0001627	intron_variant	23769			AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+33597C>T	11.37:g.63885113G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UH96	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.T458	ENST00000255681.6	37	c.1374	CCDS8056.1	11																																																																																			FLRT1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.652	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT1	HGNC	protein_coding	OTTHUMT00000396570.1	G	NM_014067		63885113	+1	no_errors	ENST00000246841	ensembl	human	known	70_37	silent	SNP	0.002	A
FMNL1	752	genome.wustl.edu	37	17	43323080	43323080	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr17:43323080C>T	ENST00000331495.3	+	23	3310	c.2974C>T	c.(2974-2976)Cgc>Tgc	p.R992C	MAP3K14-AS1_ENST00000592422.1_RNA|CTD-2020K17.4_ENST00000420431.2_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|CTD-2020K17.4_ENST00000591361.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|FMNL1_ENST00000328118.3_Missense_Mutation_p.R992C|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|FMNL1_ENST00000587489.1_Missense_Mutation_p.R570C|CTD-2020K17.4_ENST00000589518.1_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	992	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						CCTCTTTAGCCGCTTCATTAA	0.592																																					GBM(164;1247 1997 8702 11086 51972)												0													79.0	74.0	76.0					17																	43323080		2203	4300	6503	SO:0001583	missense	752			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.2974C>T	17.37:g.43323080C>T	ENSP00000329219:p.Arg992Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.R992C	ENST00000331495.3	37	c.2974	CCDS11497.1	17	.	.	.	.	.	.	.	.	.	.	C	15.93	2.976760	0.53720	.	.	ENSG00000184922	ENST00000328118;ENST00000331495	T;T	0.18338	2.22;2.22	4.36	3.35	0.38373	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.43277	0.1240	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.48736	-0.9009	10	0.72032	D	0.01	.	12.4378	0.55608	0.1694:0.8305:0.0:0.0	.	992	O95466	FMNL_HUMAN	C	992	ENSP00000327442:R992C;ENSP00000329219:R992C	ENSP00000327442:R992C	R	+	1	0	FMNL1	40678863	0.863000	0.29885	0.998000	0.56505	0.408000	0.30992	1.385000	0.34408	1.139000	0.42245	0.442000	0.29010	CGC	FMNL1	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg		0.592	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL1	HGNC	protein_coding	OTTHUMT00000450198.1	C	NM_005892		43323080	+1	no_errors	ENST00000328118	ensembl	human	known	70_37	missense	SNP	0.991	T
FSCN2	25794	genome.wustl.edu	37	17	79495811	79495811	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr17:79495811G>A	ENST00000417245.2	+	1	390	c.254G>A	c.(253-255)gGc>gAc	p.G85D	RP13-766D20.2_ENST00000430912.1_RNA|FSCN2_ENST00000334850.7_Missense_Mutation_p.G85D|RP13-766D20.2_ENST00000442532.1_RNA	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin actin-bundling protein 2, retinal	85					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|anatomical structure morphogenesis (GO:0009653)|eye photoreceptor cell development (GO:0042462)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|stereocilium (GO:0032420)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GAGCAGCCGGGCCGTGACTGC	0.716																																																	0													3.0	5.0	4.0					17																	79495811		1906	3941	5847	SO:0001583	missense	25794			AF030165	CCDS45810.1, CCDS45811.1	17q25	2014-02-03	2014-02-03		ENSG00000186765	ENSG00000186765		"""Fascins"""	3960	protein-coding gene	gene with protein product		607643	"""fascin (Strongylocentrotus purpuratus) homolog 2 (actin-bundling protein, retinal)"", ""fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)"""			10234509	Standard	NM_012418		Approved	RP30, RFSN	uc010wuo.2	O14926	OTTHUMG00000167477	ENST00000417245.2:c.254G>A	17.37:g.79495811G>A	ENSP00000388716:p.Gly85Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVC4|A8MRA6	Missense_Mutation	SNP	pfam_Fascin-domain,superfamily_Actin_cross-linking	p.G85D	ENST00000417245.2	37	c.254	CCDS45811.1	17	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495793	0.26774	.	.	ENSG00000186765	ENST00000417245;ENST00000334850	T;T	0.23348	1.91;1.91	4.62	4.62	0.57501	Fascin domain (1);Actin cross-linking (1);	0.300954	0.33813	N	0.004531	T	0.20414	0.0491	L	0.46741	1.465	0.27548	N	0.950591	B;B	0.19200	0.034;0.002	B;B	0.20184	0.028;0.006	T	0.15954	-1.0419	10	0.12766	T	0.61	-4.0549	9.9968	0.41905	0.0962:0.0:0.9038:0.0	.	85;85	O14926;A8MRA6	FSCN2_HUMAN;.	D	85	ENSP00000388716:G85D;ENSP00000334665:G85D	ENSP00000334665:G85D	G	+	2	0	FSCN2	77110406	0.996000	0.38824	0.961000	0.40146	0.989000	0.77384	3.091000	0.50199	2.102000	0.63906	0.591000	0.81541	GGC	FSCN2	-	pfam_Fascin-domain,superfamily_Actin_cross-linking		0.716	FSCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCN2	HGNC	protein_coding	OTTHUMT00000394746.1	G	NM_012418		79495811	+1	no_errors	ENST00000334850	ensembl	human	known	70_37	missense	SNP	0.507	A
GINS1	9837	genome.wustl.edu	37	20	25422397	25422397	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr20:25422397delA	ENST00000262460.4	+	6	601	c.507delA	c.(505-507)ttafs	p.L169fs	GINS1_ENST00000429262.2_3'UTR	NM_021067.3	NP_066545.3	Q14691	PSF1_HUMAN	GINS complex subunit 1 (Psf1 homolog)	169					DNA strand elongation involved in DNA replication (GO:0006271)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.N172fs*14(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						CAGTCCTATTAAAAAAAAATA	0.299																																																	1	Deletion - Frameshift(1)	lung(1)											53.0	59.0	57.0					20																	25422397		2199	4294	6493	SO:0001589	frameshift_variant	9837			BC012542	CCDS33451.1	20p11.21	2006-05-04			ENSG00000101003	ENSG00000101003			28980	protein-coding gene	gene with protein product		610608				8724849, 8786132	Standard	NM_021067		Approved	KIAA0186, PSF1	uc002wuv.1	Q14691	OTTHUMG00000032124	ENST00000262460.4:c.507delA	20.37:g.25422397delA	ENSP00000262460:p.Leu169fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NQE2|Q9NQI7	Frame_Shift_Del	DEL	NULL	p.N172fs	ENST00000262460.4	37	c.507	CCDS33451.1	20																																																																																			GINS1	-	NULL		0.299	GINS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GINS1	HGNC	protein_coding	OTTHUMT00000078433.1	A	NM_021067		25422397	+1	no_errors	ENST00000262460	ensembl	human	known	70_37	frame_shift_del	DEL	0.232	-
HECA	51696	genome.wustl.edu	37	6	139487874	139487874	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr6:139487874G>A	ENST00000367658.2	+	2	1010	c.725G>A	c.(724-726)cGg>cAg	p.R242Q	RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.3_ENST00000585874.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	242					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		CTCCCCCGCCGGCATTCCATG	0.677																																																	0													12.0	15.0	14.0					6																	139487874		2182	4271	6453	SO:0001583	missense	51696			AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.725G>A	6.37:g.139487874G>A	ENSP00000356630:p.Arg242Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	superfamily_Glycoside_hydrolase_SF	p.R242Q	ENST00000367658.2	37	c.725	CCDS5194.1	6	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976151	0.92982	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.13	5.13	0.70059	.	0.153012	0.64402	D	0.000020	T	0.52289	0.1725	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	P	0.57009	0.811	T	0.52245	-0.8601	9	0.42905	T	0.14	.	18.7842	0.91947	0.0:0.0:1.0:0.0	.	242	Q9UBI9	HDC_HUMAN	Q	242	.	ENSP00000356630:R242Q	R	+	2	0	HECA	139529567	1.000000	0.71417	0.963000	0.40424	0.891000	0.51852	9.136000	0.94489	2.676000	0.91093	0.655000	0.94253	CGG	HECA	-	NULL		0.677	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECA	HGNC	protein_coding	OTTHUMT00000042456.1	G	NM_016217		139487874	+1	no_errors	ENST00000367658	ensembl	human	known	70_37	missense	SNP	1.000	A
HEPH	9843	genome.wustl.edu	37	X	65486413	65486414	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chrX:65486413_65486414insT	ENST00000343002.2	+	20	4040_4041	c.3376_3377insT	c.(3376-3378)cttfs	p.L1126fs	HEPH_ENST00000419594.1_Frame_Shift_Ins_p.L937fs|HEPH_ENST00000519389.1_Frame_Shift_Ins_p.L1180fs|HEPH_ENST00000374727.3_Frame_Shift_Ins_p.L1129fs|HEPH_ENST00000336279.5_Frame_Shift_Ins_p.L859fs|HEPH_ENST00000441993.2_Frame_Shift_Ins_p.L1128fs			Q9BQS7	HEPH_HUMAN	hephaestin	1126					cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TGTTCTGGCTCTTGGTGGAGTG	0.48																																																	0																																										SO:0001589	frameshift_variant	9843			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3378dupT	X.37:g.65486415_65486415dupT	ENSP00000343939:p.Leu1126fs	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Frame_Shift_Ins	INS	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.G1181fs	ENST00000343002.2	37	c.3538_3539		X																																																																																			HEPH	-	NULL		0.480	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	HEPH	HGNC	protein_coding	OTTHUMT00000056995.1	-	NM_138737		65486414	+1	no_errors	ENST00000519389	ensembl	human	known	70_37	frame_shift_ins	INS	0.405:0.385	T
HIVEP1	3096	genome.wustl.edu	37	6	12123569	12123570	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr6:12123569_12123570insA	ENST00000379388.2	+	4	3873_3874	c.3541_3542insA	c.(3541-3543)caafs	p.Q1181fs	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1181					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGGAATCTCCCAAGAGGAAAGT	0.505																																																	0																																										SO:0001589	frameshift_variant	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.3543dupA	6.37:g.12123571_12123571dupA	ENSP00000368698:p.Gln1181fs	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTU3|Q14122|Q5MPB1|Q5VW60	Frame_Shift_Ins	INS	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1182fs	ENST00000379388.2	37	c.3541_3542	CCDS43426.1	6																																																																																			HIVEP1	-	NULL		0.505	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	-	NM_002114		12123570	+1	no_errors	ENST00000379388	ensembl	human	known	70_37	frame_shift_ins	INS	0.115:0.057	A
IL4I1	259307	genome.wustl.edu	37	19	50398358	50398359	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr19:50398358_50398359insC	ENST00000391826.2	-	4	473_474	c.331_332insG	c.(331-333)gagfs	p.E111fs	IL4I1_ENST00000341114.3_Frame_Shift_Ins_p.E133fs|IL4I1_ENST00000595948.1_Frame_Shift_Ins_p.E133fs	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	111						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	GGCTCCCAGCTCCCCAATCCAG	0.634																																																	0																																										SO:0001589	frameshift_variant	259307			AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.332dupG	19.37:g.50398362_50398362dupC	ENSP00000375702:p.Glu111fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Frame_Shift_Ins	INS	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_AlaDH/PNT_NAD(H)-bd,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase	p.E133fs	ENST00000391826.2	37	c.398_397	CCDS12787.1	19																																																																																			IL4I1	-	pfam_Amino_oxidase		0.634	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	IL4I1	HGNC	protein_coding	OTTHUMT00000466413.1	-			50398359	-1	no_errors	ENST00000341114	ensembl	human	known	70_37	frame_shift_ins	INS	0.998:0.995	C
INTS12	57117	genome.wustl.edu	37	4	106616790	106616791	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr4:106616790_106616791insT	ENST00000451321.2	-	3	670_671	c.191_192insA	c.(190-192)aacfs	p.N64fs	INTS12_ENST00000340139.5_Frame_Shift_Ins_p.N64fs|INTS12_ENST00000394735.1_Frame_Shift_Ins_p.N64fs	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	64					snRNA processing (GO:0016180)	integrator complex (GO:0032039)	zinc ion binding (GO:0008270)	p.N64fs*29(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		TAATGGAAATGTTTTTTGTGCT	0.337																																																	1	Deletion - Frameshift(1)	lung(1)																																								SO:0001589	frameshift_variant	57117				CCDS3671.1	4q24	2013-01-28	2006-03-15	2006-03-15	ENSG00000138785	ENSG00000138785		"""Zinc fingers, PHD-type"""	25067	protein-coding gene	gene with protein product	"""hypothetical nuclear factor SBBI22"""	611355	"""PHD finger protein 22"""	PHF22		16239144	Standard	NM_020395		Approved	SBBI22, INT12	uc010ilr.3	Q96CB8	OTTHUMG00000131215	ENST00000451321.2:c.192dupA	4.37:g.106616796_106616796dupT	ENSP00000415433:p.Asn64fs	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RC48|Q3B6Z3|Q9HD71	Frame_Shift_Ins	INS	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.N64fs	ENST00000451321.2	37	c.192_191	CCDS3671.1	4																																																																																			INTS12	-	NULL		0.337	INTS12-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	INTS12	HGNC	protein_coding	OTTHUMT00000318624.1	-	NM_020395		106616791	-1	no_errors	ENST00000340139	ensembl	human	known	70_37	frame_shift_ins	INS	0.008:0.124	T
IRX4	50805	genome.wustl.edu	37	5	1882016	1882016	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr5:1882016G>A	ENST00000505790.1	-	3	659	c.203C>T	c.(202-204)gCg>gTg	p.A68V	IRX4_ENST00000231357.2_Missense_Mutation_p.A68V|CTD-2194D22.3_ENST00000506335.1_RNA|IRX4_ENST00000513692.1_Missense_Mutation_p.A68V|IRX4_ENST00000505938.1_5'Flank	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	68					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GCCCAGCGCCGCGGCCGAGTT	0.711																																																	0													7.0	9.0	9.0					5																	1882016		2131	4179	6310	SO:0001583	missense	50805			AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.203C>T	5.37:g.1882016G>A	ENSP00000423161:p.Ala68Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain	p.A68V	ENST00000505790.1	37	c.203	CCDS3867.1	5	.	.	.	.	.	.	.	.	.	.	g	31	5.071536	0.93950	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692;ENST00000511126	T;T;T;D	0.84370	-0.23;-0.23;-0.23;-1.84	3.9	3.9	0.45041	.	0.000000	0.85682	U	0.000000	D	0.89839	0.6831	L	0.60067	1.865	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.88888	0.3344	10	0.34782	T	0.22	-21.7731	15.0184	0.71605	0.0:0.0:1.0:0.0	.	68	P78413	IRX4_HUMAN	V	68	ENSP00000231357:A68V;ENSP00000423161:A68V;ENSP00000424235:A68V;ENSP00000421772:A68V	ENSP00000231357:A68V	A	-	2	0	IRX4	1935016	1.000000	0.71417	0.985000	0.45067	0.810000	0.45777	7.999000	0.88496	1.896000	0.54893	0.461000	0.40582	GCG	IRX4	-	NULL		0.711	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	IRX4	HGNC	protein_coding	OTTHUMT00000365500.1	G	NM_016358		1882016	-1	no_errors	ENST00000231357	ensembl	human	known	70_37	missense	SNP	1.000	A
KCNG1	3755	genome.wustl.edu	37	20	49621098	49621098	+	Silent	SNP	C	C	T			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr20:49621098C>T	ENST00000371571.4	-	3	1305	c.1020G>A	c.(1018-1020)ctG>ctA	p.L340L	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'UTR	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	340					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CGCGCAGCACCAGCCCCACCT	0.726																																																	0													10.0	13.0	12.0					20																	49621098		2163	4173	6336	SO:0001819	synonymous_variant	3755			AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.1020G>A	20.37:g.49621098C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3S4|O43528|Q5JXL5|Q9BRC1	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.L340	ENST00000371571.4	37	c.1020	CCDS13436.1	20																																																																																			KCNG1	-	pfam_Ion_trans_dom		0.726	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNG1	HGNC	protein_coding	OTTHUMT00000079726.4	C	NM_002237		49621098	-1	no_errors	ENST00000371571	ensembl	human	known	70_37	silent	SNP	0.999	T
LILRB1	10859	genome.wustl.edu	37	19	55146728	55146728	+	Silent	SNP	T	T	C	rs139400692		TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr19:55146728T>C	ENST00000396331.1	+	13	1935	c.1578T>C	c.(1576-1578)gaT>gaC	p.D526D	LILRB1_ENST00000418536.2_Silent_p.D510D|LILRB1_ENST00000324602.7_Silent_p.D527D|LILRB1_ENST00000427581.2_Silent_p.D576D|LILRB1_ENST00000396321.2_Silent_p.D526D|LILRB1_ENST00000396315.1_Silent_p.D527D|LILRB1_ENST00000448689.1_Missense_Mutation_p.M501T|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000434867.2_Silent_p.D526D|LILRB1_ENST00000396332.4_Silent_p.D526D|LILRB1_ENST00000396327.3_Silent_p.D527D|LILRB1_ENST00000396317.1_Silent_p.D510D	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	526					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)	p.D526D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAGCTGCCGATGCCCAGGAAG	0.612										HNSCC(37;0.09)																																							1	Substitution - coding silent(1)	large_intestine(1)						T	,,,	3,4403	4.2+/-10.8	0,3,2200	65.0	72.0	70.0		1581,1581,1578,1578	0.2	0.0	19	dbSNP_134	70	6,8586		0,6,4290	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LILRB1	NM_001081637.1,NM_001081638.1,NM_001081639.1,NM_006669.3	,,,	0,9,6490	CC,CT,TT		0.0698,0.0681,0.0692	,,,	527/653,527/652,526/652,526/651	55146728	9,12989	2203	4296	6499	SO:0001819	synonymous_variant	10859			AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1578T>C	19.37:g.55146728T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	p.M501T	ENST00000396331.1	37	c.1502	CCDS42617.1	19	.	.	.	.	.	.	.	.	.	.	T	0.001	-2.934463	0.00053	6.81E-4	6.98E-4	ENSG00000104972	ENST00000448689	T	0.00484	7.08	1.35	0.234	0.15390	.	.	.	.	.	T	0.00178	0.0005	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.16217	-1.0410	6	0.10636	T	0.68	.	3.9581	0.09399	0.0:0.7519:0.0:0.2481	.	.	.	.	T	501	ENSP00000409968:M501T	ENSP00000410165:M501T	M	+	2	0	LILRB1	59838540	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-1.014000	0.03641	0.124000	0.18369	-1.216000	0.01612	ATG	LILRB1	-	pirsf_A1B_glyco/leuk_Ig-like_rcpt		0.612	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB1	HGNC	protein_coding	OTTHUMT00000140796.4	T			55146728	+1	no_errors	ENST00000421584	ensembl	human	known	70_37	missense	SNP	0.001	C
LOC653160	653160	genome.wustl.edu	37	1	35442664	35442664	+	RNA	SNP	G	G	A			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr1:35442664G>A	ENST00000417456.1	-	0	455																											ACGCTGATGAGCGCGGCGAAG	0.761																																																	0																																												653160																															1.37:g.35442664G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000417456.1	37	NULL		1																																																																																			RP11-244H3.1	-	-		0.761	RP11-244H3.1-002	KNOWN	basic	sense_overlapping	LOC653160	Clone_based_vega_gene	processed_transcript	OTTHUMT00000011546.3	G			35442664	-1	no_errors	ENST00000311990	ensembl	human	known	70_37	rna	SNP	0.653	A
LOC100996415	100996415	genome.wustl.edu	37	22	20342086	20342086	+	RNA	SNP	G	G	A			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr22:20342086G>A	ENST00000454636.1	+	0	779				XXbac-B33L19.6_ENST00000429995.1_lincRNA	NR_038388.1																						CGAGGACGCCGCCCAGGGCAT	0.711																																																	0																																												729444																															22.37:g.20342086G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000454636.1	37	NULL		22																																																																																			XXbac-B33L19.3	-	-		0.711	XXbac-B33L19.3-001	KNOWN	not_best_in_genome_evidence|basic	antisense	LOC729444	Clone_based_vega_gene	antisense	OTTHUMT00000319010.2	G			20342086	+1	no_errors	ENST00000454636	ensembl	human	known	70_37	rna	SNP	0.001	A
LRP5	4041	genome.wustl.edu	37	11	68201306	68201306	+	Splice_Site	SNP	G	G	T			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr11:68201306G>T	ENST00000294304.7	+	18	4106	c.4000G>T	c.(4000-4002)Gcc>Tcc	p.A1334S		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1334					adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGACTGTGACGGTGAGGCCCT	0.697																																																	0													20.0	19.0	19.0					11																	68201306		2198	4289	6487	SO:0001630	splice_region_variant	4041			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.4000+1G>T	11.37:g.68201306G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.A1334S	ENST00000294304.7	37	c.4000	CCDS8181.1	11	.	.	.	.	.	.	.	.	.	.	G	7.673	0.687302	0.14973	.	.	ENSG00000162337	ENST00000294304	D	0.92805	-3.11	4.39	4.39	0.52855	.	0.450310	0.18021	U	0.154228	T	0.81370	0.4808	N	0.17872	0.535	0.37426	D	0.913826	B;B	0.15141	0.012;0.012	B;B	0.16722	0.016;0.016	T	0.72931	-0.4142	10	0.10377	T	0.69	.	3.9444	0.09343	0.1418:0.0:0.6247:0.2334	.	1334;1334	Q9UES7;O75197	.;LRP5_HUMAN	S	1334	ENSP00000294304:A1334S	ENSP00000294304:A1334S	A	+	1	0	LRP5	67957882	0.954000	0.32549	0.962000	0.40283	0.655000	0.38815	1.602000	0.36783	2.298000	0.77334	0.456000	0.33151	GCC	LRP5	-	superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6		0.697	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5	HGNC	protein_coding	OTTHUMT00000395088.1	G	NM_002335	Missense_Mutation	68201306	+1	no_errors	ENST00000294304	ensembl	human	known	70_37	missense	SNP	0.959	T
LTBR	4055	genome.wustl.edu	37	12	6499901	6499902	+	Frame_Shift_Ins	INS	-	-	G	rs542537099		TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr12:6499901_6499902insG	ENST00000228918.4	+	10	1432_1433	c.1106_1107insG	c.(1105-1110)ctggggfs	p.LG369fs	LTBR_ENST00000539925.1_Frame_Shift_Ins_p.LG350fs|LTBR_ENST00000541102.1_Frame_Shift_Ins_p.LG226fs	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	369					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						GGACCAGTACTGGGGGGACCAC	0.599																																																	0																																										SO:0001589	frameshift_variant	4055			L04270	CCDS8544.1, CCDS59233.1	12p13	2013-05-22				ENSG00000111321		"""Tumor necrosis factor receptor superfamily"""	6718	protein-coding gene	gene with protein product		600979		D12S370		8171323, 8486360	Standard	NM_002342		Approved	TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3	uc001qny.2	P36941		ENST00000228918.4:c.1112dupG	12.37:g.6499907_6499907dupG	ENSP00000228918:p.Leu369fs	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z1D2|D3DUR2|F5GXE7	Frame_Shift_Ins	INS	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pirsf_TNFR_3_LTBR,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_3_LTBR	p.P372fs	ENST00000228918.4	37	c.1106_1107	CCDS8544.1	12																																																																																			LTBR	-	pirsf_TNFR_3_LTBR		0.599	LTBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBR	HGNC	protein_coding	OTTHUMT00000399422.1	-			6499902	+1	no_errors	ENST00000228918	ensembl	human	known	70_37	frame_shift_ins	INS	0.411:0.497	G
MAP1S	55201	genome.wustl.edu	37	19	17836950	17836950	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr19:17836950G>A	ENST00000324096.4	+	5	908	c.757G>A	c.(757-759)Gcc>Acc	p.A253T	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Missense_Mutation_p.A227T|MAP1S_ENST00000597681.1_Intron	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	253	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CCTCGGGGATGCCGCCTTCTT	0.667																																																	0													37.0	34.0	35.0					19																	17836950		2203	4300	6503	SO:0001583	missense	55201			BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.757G>A	19.37:g.17836950G>A	ENSP00000325313:p.Ala253Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	NULL	p.A253T	ENST00000324096.4	37	c.757	CCDS32954.1	19	.	.	.	.	.	.	.	.	.	.	G	12.63	1.994856	0.35226	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.20332	2.08;2.08	4.39	3.26	0.37387	.	0.157097	0.29646	N	0.011564	T	0.32010	0.0815	M	0.69823	2.125	0.41272	D	0.986851	D;D;P	0.56287	0.975;0.975;0.95	P;P;P	0.52066	0.591;0.591;0.689	T	0.14952	-1.0454	10	0.87932	D	0	-23.9373	8.8892	0.35423	0.0:0.0:0.6364:0.3636	.	227;253;253	B4DH53;A8K940;Q66K74	.;.;MAP1S_HUMAN	T	253;227	ENSP00000325313:A253T;ENSP00000439243:A227T	ENSP00000325313:A253T	A	+	1	0	MAP1S	17697950	0.331000	0.24713	0.064000	0.19789	0.040000	0.13550	1.148000	0.31614	1.979000	0.57680	0.561000	0.74099	GCC	MAP1S	-	NULL		0.667	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1S	HGNC	protein_coding	OTTHUMT00000466027.1	G	NM_018174		17836950	+1	no_errors	ENST00000324096	ensembl	human	known	70_37	missense	SNP	0.752	A
MKL2	57496	genome.wustl.edu	37	16	14346300	14346300	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr16:14346300delC	ENST00000341243.5	+	13	2611	c.2611delC	c.(2611-2613)cccfs	p.P872fs	MKL2_ENST00000571589.1_Frame_Shift_Del_p.P883fs|MKL2_ENST00000574045.1_Frame_Shift_Del_p.P833fs|MKL2_ENST00000318282.5_Frame_Shift_Del_p.P833fs			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	872					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GACAAAAGATCCCCCCCGCTA	0.562																																																	0													78.0	79.0	79.0					16																	14346300		2197	4300	6497	SO:0001589	frameshift_variant	57496			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.2611delC	16.37:g.14346300delC	ENSP00000345841:p.Pro872fs	Somatic		WXS	Illumina HiSeq	Phase_IV	A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Frame_Shift_Del	DEL	pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd	p.R873fs	ENST00000341243.5	37	c.2611		16																																																																																			MKL2	-	NULL		0.562	MKL2-202	KNOWN	basic	protein_coding	MKL2	HGNC	protein_coding		C	NM_014048		14346300	+1	no_errors	ENST00000341243	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
MSH5	4439	genome.wustl.edu	37	6	31729722	31729722	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr6:31729722G>A	ENST00000375755.3	+	23	2595	c.2309G>A	c.(2308-2310)cGt>cAt	p.R770H	SAPCD1_ENST00000415669.2_5'Flank|SAPCD1-AS1_ENST00000419679.1_RNA|MSH5_ENST00000375703.3_Missense_Mutation_p.R771H|SAPCD1_ENST00000425424.1_5'Flank|MSH5-SAPCD1_ENST00000491552.1_Intron|MSH5_ENST00000395853.1_Missense_Mutation_p.R444H|MSH5_ENST00000534153.4_Missense_Mutation_p.R787H|MSH5_ENST00000375750.3_Missense_Mutation_p.R770H|MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.R787H|MSH5_ENST00000375742.3_Missense_Mutation_p.R787H|MSH5_ENST00000375740.3_Intron|MSH5_ENST00000431848.2_Missense_Mutation_p.R469H	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	770					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						CTTGTGGCTCGTGGCAAGGAG	0.547								Direct reversal of damage;Mismatch excision repair (MMR)																																									0													68.0	73.0	71.0					6																	31729722		1511	2709	4220	SO:0001583	missense	4439			AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"""mutS (E. coli) homolog 5"", ""mutS homolog 5 (E. coli)"""			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.2309G>A	6.37:g.31729722G>A	ENSP00000364908:p.Arg770His	Somatic		WXS	Illumina HiSeq	Phase_IV	B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.R787H	ENST00000375755.3	37	c.2360	CCDS4720.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.213510	0.95069	.	.	ENSG00000204410	ENST00000375755;ENST00000375742;ENST00000375750;ENST00000534153;ENST00000375703;ENST00000431848;ENST00000395853;ENST00000429846	D;D;D;D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06	5.86	5.86	0.93980	DNA mismatch repair protein MutS, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92440	0.7600	M	0.87758	2.905	0.43164	D	0.994959	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.93121	0.6525	9	0.87932	D	0	-8.9732	15.6756	0.77316	0.0:0.0:1.0:0.0	.	770;771;787	O43196;O43196-2;O43196-3	MSH5_HUMAN;.;.	H	770;787;770;787;771;469;444;92	ENSP00000364908:R770H;ENSP00000364894:R787H;ENSP00000364903:R770H;ENSP00000431693:R787H;ENSP00000364855:R771H;ENSP00000416784:R469H;ENSP00000379194:R444H;ENSP00000406849:R92H	ENSP00000364855:R771H	R	+	2	0	MSH5	31837701	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.075000	0.64407	2.774000	0.95407	0.655000	0.94253	CGT	MSH5	-	pfam_DNA_mismatch_repair_MutS_C,smart_DNA_mismatch_repair_MutS_C		0.547	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MSH5	HGNC	protein_coding	OTTHUMT00000076243.4	G			31729722	+1	no_errors	ENST00000375742	ensembl	human	known	70_37	missense	SNP	1.000	A
MTHFR	4524	genome.wustl.edu	37	1	11854494	11854495	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr1:11854494_11854495insC	ENST00000376592.1	-	7	1395_1396	c.1267_1268insG	c.(1267-1269)gagfs	p.E423fs	MTHFR_ENST00000376590.3_Frame_Shift_Ins_p.E423fs|MTHFR_ENST00000376585.1_Frame_Shift_Ins_p.E464fs|MTHFR_ENST00000376583.3_Frame_Shift_Ins_p.E464fs			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	423					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	GGTCAGCTCCTCCCCCCACATC	0.535																																																	0																																										SO:0001589	frameshift_variant	4524			BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.1268dupG	1.37:g.11854500_11854500dupC	ENSP00000365777:p.Glu423fs	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Frame_Shift_Ins	INS	pfam_Mehydrof_redctse,tigrfam_Fadh2_euk	p.E464fs	ENST00000376592.1	37	c.1391_1390	CCDS137.1	1																																																																																			MTHFR	-	NULL		0.535	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MTHFR	HGNC	protein_coding	OTTHUMT00000006538.1	-	NM_005957		11854495	-1	no_errors	ENST00000376583	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	C
TRPC4AP	26133	genome.wustl.edu	37	20	33588263	33588263	+	IGR	SNP	C	C	T	rs200207301	byFrequency	TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr20:33588263C>T	ENST00000252015.2	-	0	3226				MYH7B_ENST00000262873.7_Missense_Mutation_p.T1692M			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CAGGCTGCCACGCGGCTGATG	0.687													C|||	3	0.000599042	0.0008	0.0014	5008	,	,		16374	0.0		0.0	False		,,,				2504	0.001																0																																										SO:0001628	intergenic_variant	57644			AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319		20.37:g.33588263C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.T1692M	ENST00000252015.2	37	c.5075	CCDS13246.1	20	.	.	.	.	.	.	.	.	.	.	C	12.74	2.027886	0.35797	.	.	ENSG00000078814	ENST00000262873	T	0.77750	-1.12	4.37	4.37	0.52481	Myosin tail (1);	0.000000	0.39020	N	0.001497	T	0.49558	0.1564	N	0.02802	-0.49	0.25280	N	0.989446	B	0.27732	0.187	B	0.14023	0.01	T	0.43114	-0.9411	10	0.62326	D	0.03	.	5.8934	0.18925	0.0:0.6658:0.1663:0.168	.	1650	A7E2Y1	MYH7B_HUMAN	M	1692	ENSP00000262873:T1692M	ENSP00000262873:T1692M	T	+	2	0	MYH7B	33051924	0.000000	0.05858	0.960000	0.40013	0.988000	0.76386	0.369000	0.20416	2.272000	0.75746	0.558000	0.71614	ACG	MYH7B	-	pfam_Myosin_tail,superfamily_t-SNARE		0.687	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7B	HGNC	protein_coding	OTTHUMT00000078832.2	C	NM_015638		33588263	+1	no_errors	ENST00000262873	ensembl	human	novel	70_37	missense	SNP	0.905	T
NAA15	80155	genome.wustl.edu	37	4	140291445	140291445	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr4:140291445delA	ENST00000296543.5	+	15	2157	c.1834delA	c.(1834-1836)aaafs	p.K613fs	NAA15_ENST00000398947.1_Frame_Shift_Del_p.K613fs	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	613	Interaction with HYPK.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						agaagaagagaaaaaaaatgc	0.358																																																	0													48.0	46.0	47.0					4																	140291445		1813	4073	5886	SO:0001589	frameshift_variant	80155			AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.1834delA	4.37:g.140291445delA	ENSP00000296543:p.Lys613fs	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Frame_Shift_Del	DEL	pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.N614fs	ENST00000296543.5	37	c.1834	CCDS43270.1	4																																																																																			NAA15	-	pirsf_NatA_aux_su		0.358	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAA15	HGNC	protein_coding	OTTHUMT00000267839.2	A	NM_057175		140291445	+1	no_errors	ENST00000296543	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
NLRC3	197358	genome.wustl.edu	37	16	3613196	3613196	+	RNA	SNP	C	C	T			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr16:3613196C>T	ENST00000301749.7	-	0	2147				NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCCACGCTGCGGGCCAGCTC	0.706																																																	0													9.0	12.0	11.0					16																	3613196		2107	4216	6323			197358			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3613196C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.R628H	ENST00000301749.7	37	c.1883		16	.	.	.	.	.	.	.	.	.	.	C	6.775	0.511954	0.12944	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82	4.89	-3.46	0.04767	.	0.489205	0.20893	N	0.083782	T	0.71779	0.3380	.	.	.	0.09310	N	1	B	0.25904	0.137	B	0.18561	0.022	T	0.59112	-0.7515	9	0.59425	D	0.04	.	6.5398	0.22375	0.0:0.4107:0.1225:0.4668	.	628	C9JLH9	.	H	581;581;581;628;563	ENSP00000301749:R581H;ENSP00000352039:R581H;ENSP00000414415:R628H;ENSP00000323897:R563H	ENSP00000301749:R581H	R	-	2	0	NLRC3	3553197	0.000000	0.05858	0.062000	0.19696	0.012000	0.07955	1.086000	0.30853	-0.740000	0.04803	-0.878000	0.02970	CGC	NLRC3	-	NULL		0.706	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	NLRC3	HGNC	polymorphic_pseudogene		C	NM_178844		3613196	-1	no_errors	ENST00000448023	ensembl	human	known	70_37	missense	SNP	0.017	T
NOP14	8602	genome.wustl.edu	37	4	2939958	2939958	+	3'UTR	DEL	A	A	-			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr4:2939958delA	ENST00000416614.2	-	0	3239				NOP14_ENST00000502735.1_3'UTR|NOP14_ENST00000314262.6_Intron|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000507702.1_RNA|NOP14_ENST00000398071.4_Frame_Shift_Del_p.F801fs|NOP14-AS1_ENST00000512802.1_RNA|NOP14-AS1_ENST00000507999.1_RNA|NOP14_ENST00000507120.1_5'UTR|NOP14-AS1_ENST00000512712.2_RNA			P78316	NOP14_HUMAN	NOP14 nucleolar protein						endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TTATTACTCTAAAAAAAATTA	0.478																																																	0																																										SO:0001624	3_prime_UTR_variant	8602			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000416614.2:c.*600T>-	4.37:g.2939958delA		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Frame_Shift_Del	DEL	pfam_Nop14	p.F801fs	ENST00000416614.2	37	c.2403	CCDS33945.1	4																																																																																			NOP14	-	NULL		0.478	NOP14-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP14	HGNC	protein_coding	OTTHUMT00000358137.2	A	NM_003703		2939958	-1	no_errors	ENST00000398071	ensembl	human	known	70_37	frame_shift_del	DEL	0.010	-
PCNT	5116	genome.wustl.edu	37	21	47851552	47851552	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr21:47851552A>G	ENST00000359568.5	+	38	8281	c.8174A>G	c.(8173-8175)gAg>gGg	p.E2725G	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2725					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)					CTGCGTATCGAGCACTCACGC	0.617																																																	0													50.0	46.0	48.0					21																	47851552		2203	4300	6503	SO:0001583	missense	5116			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.8174A>G	21.37:g.47851552A>G	ENSP00000352572:p.Glu2725Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	O43152|Q7Z7C9	Missense_Mutation	SNP	pfam_PACT_domain	p.E2725G	ENST00000359568.5	37	c.8174	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	A	30	5.053274	0.93793	.	.	ENSG00000160299	ENST00000359568	T	0.10860	2.83	5.32	5.32	0.75619	.	0.000000	0.34411	N	0.003981	T	0.32734	0.0839	M	0.70275	2.135	0.43421	D	0.995571	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.03852	-1.0998	10	0.72032	D	0.01	.	14.7759	0.69732	1.0:0.0:0.0:0.0	.	2607;2725	O95613-2;O95613	.;PCNT_HUMAN	G	2725	ENSP00000352572:E2725G	ENSP00000352572:E2725G	E	+	2	0	PCNT	46675980	1.000000	0.71417	0.972000	0.41901	0.955000	0.61496	8.384000	0.90160	2.152000	0.67230	0.533000	0.62120	GAG	PCNT	-	NULL		0.617	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	A	NM_006031		47851552	+1	no_errors	ENST00000359568	ensembl	human	known	70_37	missense	SNP	1.000	G
PI4KA	5297	genome.wustl.edu	37	22	21065052	21065053	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr22:21065052_21065053insC	ENST00000572273.1	-	52	6073_6074	c.5843_5844insG	c.(5842-5844)ggcfs	p.G1948fs	PI4KA_ENST00000255882.6_Frame_Shift_Ins_p.G2006fs|PI4KA_ENST00000414196.3_Frame_Shift_Ins_p.G758fs			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1948	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.G1948V(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CCTCCATCTTGCCCCCCATGAT	0.594																																					GBM(136;1332 1831 3115 23601 50806)												2	Substitution - Missense(2)	endometrium(2)																																								SO:0001589	frameshift_variant	5297			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.5844dupG	22.37:g.21065058_21065058dupC	ENSP00000458238:p.Gly1948fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z625|Q9UPG2	Frame_Shift_Ins	INS	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.K2007fs	ENST00000572273.1	37	c.6018_6017		22																																																																																			PI4KA	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.594	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		-	NM_058004		21065053	-1	no_errors	ENST00000255882	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	C
PPL	5493	genome.wustl.edu	37	16	4933425	4933425	+	Missense_Mutation	SNP	G	G	A	rs560425818		TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr16:4933425G>A	ENST00000345988.2	-	22	5320	c.5231C>T	c.(5230-5232)tCc>tTc	p.S1744F	PPL_ENST00000590782.2_Missense_Mutation_p.S1742F	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1744					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CTCCTGGATGGACATATCCTT	0.567																																																	0													90.0	83.0	85.0					16																	4933425		2197	4300	6497	SO:0001583	missense	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.5231C>T	16.37:g.4933425G>A	ENSP00000340510:p.Ser1744Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	O60314|O60454|Q14C98	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.S1744F	ENST00000345988.2	37	c.5231	CCDS10526.1	16	.	.	.	.	.	.	.	.	.	.	G	16.82	3.229474	0.58777	.	.	ENSG00000118898	ENST00000345988	T	0.46063	0.88	5.83	5.83	0.93111	.	0.139293	0.49916	D	0.000124	T	0.65417	0.2689	M	0.65498	2.005	0.58432	D	0.999996	D	0.89917	1.0	D	0.78314	0.991	T	0.64689	-0.6348	10	0.59425	D	0.04	.	19.7135	0.96105	0.0:0.0:1.0:0.0	.	1744	O60437	PEPL_HUMAN	F	1744	ENSP00000340510:S1744F	ENSP00000340510:S1744F	S	-	2	0	PPL	4873426	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.939000	0.70179	2.769000	0.95229	0.655000	0.94253	TCC	PPL	-	NULL		0.567	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	HGNC	protein_coding	OTTHUMT00000251715.1	G	NM_002705		4933425	-1	no_errors	ENST00000345988	ensembl	human	known	70_37	missense	SNP	1.000	A
PPP6R2	9701	genome.wustl.edu	37	22	50877166	50877166	+	Frame_Shift_Del	DEL	G	G	-	rs4824131	byFrequency	TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr22:50877166delG	ENST00000216061.5	+	20	2473	c.2103delG	c.(2101-2103)gcgfs	p.A701fs	PPP6R2_ENST00000395744.3_Frame_Shift_Del_p.A674fs|PPP6R2_ENST00000395741.3_Frame_Shift_Del_p.A675fs|PPP6R2_ENST00000359139.3_Frame_Shift_Del_p.A674fs			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	701						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						AGAAGGAAGCGCCCCCTGTGG	0.672																																																	0													18.0	19.0	19.0					22																	50877166		2197	4298	6495	SO:0001589	frameshift_variant	9701			AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.2103delG	22.37:g.50877166delG	ENSP00000216061:p.Ala701fs	Somatic		WXS	Illumina HiSeq	Phase_IV	A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Frame_Shift_Del	DEL	pfam_SAPS,superfamily_ARM-type_fold	p.P703fs	ENST00000216061.5	37	c.2103		22																																																																																			PPP6R2	-	NULL		0.672	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	PPP6R2	HGNC	protein_coding	OTTHUMT00000316809.1	G	NM_014678		50877166	+1	no_errors	ENST00000216061	ensembl	human	known	70_37	frame_shift_del	DEL	0.000	-
PRDM15	63977	genome.wustl.edu	37	21	43254644	43254645	+	Intron	INS	-	-	C			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr21:43254644_43254645insC	ENST00000269844.3	-	18	2575				PRDM15_ENST00000422911.1_Frame_Shift_Ins_p.P503fs|PRDM15_ENST00000398548.1_Intron|PRDM15_ENST00000447207.2_Intron|PRDM15_ENST00000538201.1_Frame_Shift_Ins_p.P466fs	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CTGCCGCCGGGCCCCCCCTCTC	0.624																																																	0																																										SO:0001627	intron_variant	63977			AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.2464+900->G	21.37:g.43254651_43254651dupC		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Frame_Shift_Ins	INS	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.P465fs	ENST00000269844.3	37	c.1396_1395	CCDS13676.1	21																																																																																			PRDM15	-	pfscan_Znf_C2H2		0.624	PRDM15-201	KNOWN	basic|CCDS	protein_coding	PRDM15	HGNC	protein_coding		-	NM_022115		43254645	-1	no_errors	ENST00000538201	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.000	C
PTENP1	11191	genome.wustl.edu	37	9	33674656	33674656	+	RNA	SNP	T	T	C			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr9:33674656T>C	ENST00000532280.1	-	0	2841					NR_023917.1				phosphatase and tensin homolog pseudogene 1 (functional)																		GTGTTTCTTATCTATGACATT	0.328																																																	0																																												11191			AF023139, BC038293, BY797336		9p13.3	2014-09-11	2014-01-16		ENSG00000237984	ENSG00000237984		"""-"""	9589	pseudogene	pseudogene		613531	"""phosphatase and tensin homolog pseudogene 1"""			9393738, 9620558	Standard	NR_023917		Approved	PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1	uc003zth.4		OTTHUMG00000000410		9.37:g.33674656T>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000532280.1	37	NULL		9																																																																																			PTENP1	-	-		0.328	PTENP1-002	KNOWN	basic	processed_transcript	PTENP1	HGNC	pseudogene	OTTHUMT00000395145.1	T	NR_023917		33674656	-1	no_errors	ENST00000532280	ensembl	human	known	70_37	rna	SNP	1.000	C
RBM43	375287	genome.wustl.edu	37	2	152112048	152112048	+	Splice_Site	DEL	T	T	-			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr2:152112048delT	ENST00000331426.5	-	2	364	c.213delA	c.(211-213)aaa>aa	p.K71fs		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	71	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TGGAAATACCTTTTTTTTCTT	0.289																																																	0										9,4257		4,1,2128	78.0	82.0	81.0			4.6	1.0	2		80	6,8248		2,2,4123	no	frameshift-near-splice	RBM43	NM_198557.2		6,3,6251	A1A1,A1R,RR		0.0727,0.211,0.1198			152112048	15,12505	2203	4300	6503	SO:0001630	splice_region_variant	375287			AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"""RNA binding motif (RRM) containing"""	24790	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 38"""	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.214+1A>-	2.37:g.152112048delT		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMT5	Frame_Shift_Del	DEL	pfscan_RRM_dom	p.V72fs	ENST00000331426.5	37	c.213	CCDS2191.1	2																																																																																			RBM43	-	pfscan_RRM_dom		0.289	RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM43	HGNC	protein_coding	OTTHUMT00000254816.2	T	NM_198557	Frame_Shift_Del	152112048	-1	no_errors	ENST00000331426	ensembl	human	known	70_37	frame_shift_del	DEL	0.948	-
RGS11	8786	genome.wustl.edu	37	16	321285	321285	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr16:321285G>T	ENST00000397770.3	-	12	796	c.779C>A	c.(778-780)cCc>cAc	p.P260H	ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000316163.5_Missense_Mutation_p.P239H|RGS11_ENST00000359740.5_Missense_Mutation_p.P249H			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	260	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GGGATCGTGGGGTCCACGCTG	0.662																																																	0													30.0	35.0	33.0					16																	321285		2203	4300	6503	SO:0001583	missense	8786			AF035153	CCDS10403.1, CCDS42088.1, CCDS66884.1	16p13.3	2008-07-28	2007-08-14		ENSG00000076344	ENSG00000076344		"""Regulators of G-protein signaling"""	9993	protein-coding gene	gene with protein product		603895	"""regulator of G-protein signalling 11"""			9789084	Standard	NM_001286486		Approved		uc002cgj.1	O94810	OTTHUMG00000064893	ENST00000397770.3:c.779C>A	16.37:g.321285G>T	ENSP00000380876:p.Pro260His	Somatic		WXS	Illumina HiSeq	Phase_IV	O75883|Q4TT71|Q4TT72	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.P260H	ENST00000397770.3	37	c.779	CCDS42088.1	16	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369118	0.24771	.	.	ENSG00000076344	ENST00000397770;ENST00000316163;ENST00000359740	T;T;T	0.21734	1.99;1.99;1.99	4.77	2.79	0.32731	G-protein gamma domain (4);	0.368825	0.27549	N	0.018877	T	0.43919	0.1269	M	0.82517	2.595	0.09310	N	0.99999	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.65233	0.922;0.933;0.933	T	0.31081	-0.9956	10	0.62326	D	0.03	-22.982	10.1556	0.42820	0.1655:0.0:0.8345:0.0	.	249;260;260	O94810-2;Q4TT70;O94810	.;.;RGS11_HUMAN	H	260;239;249	ENSP00000380876:P260H;ENSP00000319069:P239H;ENSP00000352778:P249H	ENSP00000319069:P239H	P	-	2	0	RGS11	261286	0.989000	0.36119	0.001000	0.08648	0.222000	0.24845	1.937000	0.40193	0.427000	0.26145	0.305000	0.20034	CCC	RGS11	-	pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom		0.662	RGS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS11	HGNC	protein_coding	OTTHUMT00000139325.2	G			321285	-1	no_errors	ENST00000397770	ensembl	human	known	70_37	missense	SNP	0.060	T
RNF145	153830	genome.wustl.edu	37	5	158630642	158630643	+	5'UTR	DEL	TT	TT	-	rs74770414|rs202186112		TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	TT	TT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr5:158630642_158630643delTT	ENST00000424310.2	-	0	342_343				RNF145_ENST00000520638.1_Frame_Shift_Del_p.K12fs|RNF145_ENST00000521606.2_Frame_Shift_Del_p.K15fs|RNF145_ENST00000274542.2_Frame_Shift_Del_p.K26fs|RNF145_ENST00000518802.1_Frame_Shift_Del_p.K28fs|RNF145_ENST00000519865.1_5'UTR	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145							integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			tttttttttctttttttttttc	0.361																																																	0																																										SO:0001623	5_prime_UTR_variant	153830			BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.-18AA>-	5.37:g.158630650_158630651delTT		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z903|B7Z949|E7EVI7|Q8IVP7	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	p.K23fs	ENST00000424310.2	37	c.68_67	CCDS56390.1	5																																																																																			RNF145	-	NULL		0.361	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF145	HGNC	protein_coding	OTTHUMT00000374048.1	TT	NM_144726		158630643	-1	no_errors	ENST00000274542	ensembl	human	known	70_37	frame_shift_del	DEL	0.000:0.000	-
SDCCAG3	10807	genome.wustl.edu	37	9	139301724	139301724	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr9:139301724G>A	ENST00000357365.3	-	5	821	c.692C>T	c.(691-693)gCg>gTg	p.A231V	SDCCAG3_ENST00000371725.3_Missense_Mutation_p.A158V|SDCCAG3_ENST00000298537.7_Missense_Mutation_p.A208V|SDCCAG3_ENST00000461693.1_5'Flank	NM_001039707.1	NP_001034796.1	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	231						cytoplasm (GO:0005737)				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		GTCACTCAACGCCCACGAGGG	0.637																																																	0													22.0	25.0	24.0					9																	139301724		2048	4192	6240	SO:0001583	missense	10807			AF039688	CCDS6999.2, CCDS43903.1, CCDS43904.1	9q34.3	2010-10-27			ENSG00000165689	ENSG00000165689			10667	protein-coding gene	gene with protein product						9610721	Standard	XM_005266050		Approved	NY-CO-3	uc004chi.3	Q96C92	OTTHUMG00000020928	ENST00000357365.3:c.692C>T	9.37:g.139301724G>A	ENSP00000349929:p.Ala231Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5	Missense_Mutation	SNP	NULL	p.A231V	ENST00000357365.3	37	c.692	CCDS43904.1	9	.	.	.	.	.	.	.	.	.	.	G	12.48	1.951958	0.34471	.	.	ENSG00000165689	ENST00000357365;ENST00000298537;ENST00000371725;ENST00000371723	T;T;T;T	0.30981	2.5;2.51;2.51;1.51	5.4	4.5	0.54988	.	0.304106	0.32416	N	0.006122	T	0.17789	0.0427	N	0.14661	0.345	0.22330	N	0.999191	P;P;P	0.37122	0.583;0.583;0.583	B;B;B	0.34138	0.176;0.176;0.176	T	0.09465	-1.0673	10	0.32370	T	0.25	-34.9473	12.2948	0.54840	0.0836:0.0:0.9164:0.0	.	158;208;231	Q96C92-4;Q96C92-2;Q96C92	.;.;SDCG3_HUMAN	V	231;208;158;181	ENSP00000349929:A231V;ENSP00000298537:A208V;ENSP00000360790:A158V;ENSP00000360788:A181V	ENSP00000298537:A208V	A	-	2	0	SDCCAG3	138421545	0.986000	0.35501	0.493000	0.27502	0.022000	0.10575	2.309000	0.43699	1.260000	0.44134	0.655000	0.94253	GCG	SDCCAG3	-	NULL		0.637	SDCCAG3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SDCCAG3	HGNC	protein_coding	OTTHUMT00000055060.2	G	NM_006643		139301724	-1	no_errors	ENST00000357365	ensembl	human	known	70_37	missense	SNP	0.935	A
SERPINI2	5276	genome.wustl.edu	37	3	167185055	167185055	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr3:167185055A>G	ENST00000476257.1	-	4	564	c.266T>C	c.(265-267)cTg>cCg	p.L89P	SERPINI2_ENST00000471111.1_Missense_Mutation_p.L89P|SERPINI2_ENST00000465031.1_5'Flank|SERPINI2_ENST00000461846.1_Missense_Mutation_p.L89P|SERPINI2_ENST00000264677.4_Missense_Mutation_p.L89P			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	89					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						AAATGACTTCAGTACAAAAAA	0.328																																																	0													58.0	62.0	60.0					3																	167185055		2195	4298	6493	SO:0001583	missense	5276			AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"""Serine (or cysteine) peptidase inhibitors"""	8945	protein-coding gene	gene with protein product		605587	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2"", ""serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"""	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.266T>C	3.37:g.167185055A>G	ENSP00000420621:p.Leu89Pro	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.L89P	ENST00000476257.1	37	c.266	CCDS3200.1	3	.	.	.	.	.	.	.	.	.	.	A	16.15	3.041985	0.55003	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111;ENST00000466903	T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03	5.41	5.41	0.78517	Serpin domain (3);	0.000000	0.64402	D	0.000001	D	0.88149	0.6359	M	0.81239	2.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.983	D	0.89878	0.4028	10	0.87932	D	0	.	15.4555	0.75311	1.0:0.0:0.0:0.0	.	89;89	B4DDY9;O75830	.;SPI2_HUMAN	P	89	ENSP00000420621:L89P;ENSP00000417692:L89P;ENSP00000264677:L89P;ENSP00000419407:L89P;ENSP00000417752:L89P	ENSP00000264677:L89P	L	-	2	0	SERPINI2	168667749	1.000000	0.71417	0.989000	0.46669	0.700000	0.40528	6.357000	0.73051	2.067000	0.61834	0.533000	0.62120	CTG	SERPINI2	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.328	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINI2	HGNC	protein_coding	OTTHUMT00000350450.1	A	NM_006217		167185055	-1	no_errors	ENST00000264677	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC16A11	162515	genome.wustl.edu	37	17	6945572	6945572	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr17:6945572C>T	ENST00000308009.1	-	3	1266	c.929G>A	c.(928-930)cGg>cAg	p.R310Q	SLC16A11_ENST00000447225.1_Missense_Mutation_p.R286Q	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	310					lipid metabolic process (GO:0006629)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						GGCCAGCAGCCGCGGGAGGGG	0.741																																																	0													3.0	6.0	5.0					17																	6945572		1986	3909	5895	SO:0001583	missense	162515			AK074674	CCDS11086.1	17p13.2	2013-07-18	2013-07-18		ENSG00000174326	ENSG00000174326		"""Solute carriers"""	23093	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 11"""	615765	"""solute carrier family 16 (monocarboxylic acid transporters), member 11"""				Standard	NM_153357		Approved	FLJ90193, MCT11	uc002gei.1	Q8NCK7	OTTHUMG00000102087	ENST00000308009.1:c.929G>A	17.37:g.6945572C>T	ENSP00000310490:p.Arg310Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R310Q	ENST00000308009.1	37	c.929	CCDS11086.1	17	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136260	0.77662	.	.	ENSG00000174326	ENST00000308009;ENST00000447225	T;T	0.60424	0.19;0.36	5.09	5.09	0.68999	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.067341	0.64402	D	0.000012	T	0.59293	0.2183	L	0.31664	0.95	0.33091	D	0.537922	D	0.89917	1.0	D	0.66716	0.946	T	0.63111	-0.6710	10	0.26408	T	0.33	.	9.4102	0.38487	0.0:0.9064:0.0:0.0936	.	310	Q8NCK7	MOT11_HUMAN	Q	310;286	ENSP00000310490:R310Q;ENSP00000394449:R286Q	ENSP00000310490:R310Q	R	-	2	0	SLC16A11	6886296	0.946000	0.32159	0.995000	0.50966	0.994000	0.84299	3.183000	0.50918	2.633000	0.89246	0.655000	0.94253	CGG	SLC16A11	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.741	SLC16A11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC16A11	HGNC	protein_coding	OTTHUMT00000219921.1	C	NM_153357		6945572	-1	no_errors	ENST00000308009	ensembl	human	known	70_37	missense	SNP	0.968	T
SLC38A9	153129	genome.wustl.edu	37	5	55008363	55008363	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr5:55008363G>T	ENST00000396865.2	-	0	191				SLC38A9_ENST00000504880.1_5'UTR	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9						amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				CGGAACTGCAGCCCCGAGTTT	0.667																																																	0																																												153129				CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"""Solute carriers"""	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.-401C>A	5.37:g.55008363G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	RNA	SNP	-	NULL	ENST00000396865.2	37	NULL	CCDS3968.1	5																																																																																			SLC38A9	-	-		0.667	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC38A9	HGNC	protein_coding	OTTHUMT00000253912.2	G	NM_173514		55008363	-1	no_errors	ENST00000504880	ensembl	human	known	70_37	rna	SNP	0.000	T
SLC27A6	28965	genome.wustl.edu	37	5	128368800	128368800	+	Splice_Site	SNP	A	A	G			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr5:128368800A>G	ENST00000262462.4	+	10	2695	c.1685A>G	c.(1684-1686)gAa>gGa	p.E562G	SLC27A6_ENST00000395266.1_Splice_Site_p.E562G|SLC27A6_ENST00000506176.1_Splice_Site_p.E562G			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	562					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GCTTTACAGGAAAAAATGGAA	0.289																																																	0													45.0	44.0	44.0					5																	128368800		2203	4295	6498	SO:0001630	splice_region_variant	28965			AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.1684-1A>G	5.37:g.128368800A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.E562G	ENST00000262462.4	37	c.1685	CCDS4145.1	5	.	.	.	.	.	.	.	.	.	.	A	12.42	1.933565	0.34096	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.52754	0.65;0.65;0.65	3.85	2.65	0.31530	.	0.187745	0.45867	D	0.000323	T	0.39306	0.1073	L	0.56124	1.755	0.34014	D	0.651789	B	0.12630	0.006	B	0.15870	0.014	T	0.45527	-0.9255	9	.	.	.	-0.2019	9.7551	0.40498	0.9132:0.0:0.0868:0.0	.	562	Q9Y2P4	S27A6_HUMAN	G	562	ENSP00000262462:E562G;ENSP00000378684:E562G;ENSP00000421024:E562G	.	E	+	2	0	SLC27A6	128396699	0.999000	0.42202	1.000000	0.80357	0.891000	0.51852	2.775000	0.47702	0.807000	0.34208	0.477000	0.44152	GAA	SLC27A6	-	NULL		0.289	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A6	HGNC	protein_coding	OTTHUMT00000250980.1	A	NM_014031	Missense_Mutation	128368800	+1	no_errors	ENST00000262462	ensembl	human	known	70_37	missense	SNP	1.000	G
SLITRK2	84631	genome.wustl.edu	37	X	144904117	144904118	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chrX:144904117_144904118insC	ENST00000370490.1	+	1	4429_4430	c.174_175insC	c.(175-177)cccfs	p.P59fs	SLITRK2_ENST00000434188.2_Frame_Shift_Ins_p.P59fs|SLITRK2_ENST00000413937.2_Frame_Shift_Ins_p.P59fs|SLITRK2_ENST00000447897.2_Frame_Shift_Ins_p.P59fs|SLITRK2_ENST00000428560.2_Frame_Shift_Ins_p.P59fs			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	59					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTGCTCCAGCCCCCCCAGTA	0.431																																																	0																																										SO:0001589	frameshift_variant	84631			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.181dupC	X.37:g.144904124_144904124dupC	ENSP00000359521:p.Pro59fs	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Frame_Shift_Ins	INS	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.Q60fs	ENST00000370490.1	37	c.174_175	CCDS14680.1	X																																																																																			SLITRK2	-	smart_LRR-contain_N		0.431	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK2	HGNC	protein_coding	OTTHUMT00000058633.1	-	NM_032539		144904118	+1	no_errors	ENST00000370490	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	C
SNRNP48	154007	genome.wustl.edu	37	6	7602865	7602865	+	Missense_Mutation	SNP	G	G	A	rs35681346		TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr6:7602865G>A	ENST00000342415.5	+	6	664	c.605G>A	c.(604-606)cGa>cAa	p.R202Q		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	202					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GACAATAGTCGAAAAAGTCCA	0.294																																																	0													49.0	53.0	52.0					6																	7602865		2203	4299	6502	SO:0001583	missense	154007			AK056796	CCDS4502.1	6p24.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000168566	ENSG00000168566			21368	protein-coding gene	gene with protein product	"""U11/U12 snRNP 48K"""		"""chromosome 6 open reading frame 151"""	C6orf151		15146077	Standard	XR_427825		Approved	FLJ32234, dJ512B11.2, dJ336K20B.1	uc003mxr.3	Q6IEG0	OTTHUMG00000014213	ENST00000342415.5:c.605G>A	6.37:g.7602865G>A	ENSP00000339834:p.Arg202Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1	Missense_Mutation	SNP	pfam_TRM13/UPF0224_CHHC_Znf_dom	p.R202Q	ENST00000342415.5	37	c.605	CCDS4502.1	6	.	.	.	.	.	.	.	.	.	.	G	7.739	0.700804	0.15172	.	.	ENSG00000168566	ENST00000342415	T	0.27890	1.64	4.9	3.95	0.45737	.	0.060510	0.64402	D	0.000003	T	0.02230	0.0069	N	0.01134	-0.995	0.35085	D	0.763735	B	0.16802	0.019	B	0.09377	0.004	T	0.46105	-0.9215	10	0.02654	T	1	-5.9964	5.7929	0.18371	0.2062:0.0:0.7938:0.0	.	202	Q6IEG0	SNR48_HUMAN	Q	202	ENSP00000339834:R202Q	ENSP00000339834:R202Q	R	+	2	0	SNRNP48	7547864	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.970000	0.49240	2.527000	0.85204	0.563000	0.77884	CGA	SNRNP48	-	NULL		0.294	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP48	HGNC	protein_coding	OTTHUMT00000039787.3	G	NM_152551		7602865	+1	no_errors	ENST00000342415	ensembl	human	known	70_37	missense	SNP	1.000	A
SYNE2	23224	genome.wustl.edu	37	14	64427501	64427501	+	Intron	SNP	G	G	T			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr14:64427501G>T	ENST00000344113.4	+	9	999				SYNE2_ENST00000341472.5_Missense_Mutation_p.V279L|SYNE2_ENST00000357395.3_Intron|SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000358025.3_Intron	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2						centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		gcctggcacagtgtcttgtgc	0.433																																																	0													26.0	25.0	26.0					14																	64427501		876	1991	2867	SO:0001627	intron_variant	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.788-742G>T	14.37:g.64427501G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.V279L	ENST00000344113.4	37	c.835	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	9.650	1.141215	0.21205	.	.	ENSG00000054654	ENST00000341472	D	0.90504	-2.68	0.664	0.664	0.17890	.	.	.	.	.	D	0.85737	0.5766	.	.	.	0.09310	N	1	B	0.32829	0.386	B	0.35240	0.198	T	0.77843	-0.2437	7	0.87932	D	0	.	.	.	.	.	279	Q8WXH0-8	.	L	279	ENSP00000344528:V279L	ENSP00000344528:V279L	V	+	1	0	SYNE2	63497254	0.034000	0.19679	0.008000	0.14137	0.191000	0.23601	0.000000	0.12993	0.593000	0.29745	0.313000	0.20887	GTG	SYNE2	-	smart_CH-domain		0.433	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64427501	+1	no_errors	ENST00000341472	ensembl	human	novel	70_37	missense	SNP	0.011	T
SYNJ2	8871	genome.wustl.edu	37	6	158492661	158492661	+	Silent	SNP	G	G	A			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr6:158492661G>A	ENST00000355585.4	+	15	2043	c.1968G>A	c.(1966-1968)acG>acA	p.T656T	SYNJ2_ENST00000367122.2_Silent_p.T656T|SYNJ2_ENST00000367121.3_Silent_p.T656T	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	656					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.T656T(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CAGTGAAGACGGGCATGGGGG	0.612																																																	1	Substitution - coding silent(1)	endometrium(1)											70.0	70.0	70.0					6																	158492661		2203	4300	6503	SO:0001819	synonymous_variant	8871			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.1968G>A	6.37:g.158492661G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.T656	ENST00000355585.4	37	c.1968	CCDS5254.1	6																																																																																			SYNJ2	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc		0.612	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNJ2	HGNC	protein_coding	OTTHUMT00000042858.2	G			158492661	+1	no_errors	ENST00000355585	ensembl	human	known	70_37	silent	SNP	1.000	A
SYNJ2	8871	genome.wustl.edu	37	6	158508008	158508009	+	Frame_Shift_Ins	INS	-	-	C	rs531633531	byFrequency	TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr6:158508008_158508009insC	ENST00000355585.4	+	23	3405_3406	c.3330_3331insC	c.(3331-3333)cccfs	p.P1111fs	SYNJ2_ENST00000367122.2_Intron|SYNJ2_ENST00000367121.3_Frame_Shift_Ins_p.P1111fs|SYNJ2_ENST00000367112.1_Frame_Shift_Ins_p.P196fs	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1111	Pro-rich.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.P1113fs*5(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CCCCGCAGAGACCCCCCCCTCC	0.634													CCCCCCCC|CCCCCCCC|CCCCCCCCC|insertion	3	0.000599042	0.0	0.0	5008	,	,		14958	0.003		0.0	False		,,,				2504	0.0																1	Deletion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	8871			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3338dupC	6.37:g.158508016_158508016dupC	ENSP00000347792:p.Pro1111fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Frame_Shift_Ins	INS	pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.P1113fs	ENST00000355585.4	37	c.3330_3331	CCDS5254.1	6																																																																																			SYNJ2	-	NULL		0.634	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNJ2	HGNC	protein_coding	OTTHUMT00000042858.2	-			158508009	+1	no_errors	ENST00000355585	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	C
TADA3	10474	genome.wustl.edu	37	3	9831553	9831553	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr3:9831553G>T	ENST00000301964.2	-	3	860	c.302C>A	c.(301-303)cCc>cAc	p.P101H	ARPC4_ENST00000287613.7_5'Flank|ARPC4_ENST00000397261.3_5'Flank|TADA3_ENST00000343450.2_Missense_Mutation_p.P101H|TADA3_ENST00000440161.1_Missense_Mutation_p.P101H|TADA3_ENST00000492635.1_5'UTR|ARPC4_ENST00000498623.2_5'Flank	NM_006354.2	NP_006345.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	101					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|intracellular estrogen receptor signaling pathway (GO:0030520)|mitotic nuclear division (GO:0007067)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of histone deacetylation (GO:0031063)|regulation of protein phosphorylation (GO:0001932)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of tubulin deacetylation (GO:0090043)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|intracellular (GO:0005622)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						CTGCTTCTTGGGCTTCCCATG	0.547																																																	0													80.0	75.0	76.0					3																	9831553		2203	4300	6503	SO:0001583	missense	10474			AF069733	CCDS2583.1, CCDS2584.1	3p25.3	2010-08-13	2009-10-02	2009-10-02	ENSG00000171148	ENSG00000171148			19422	protein-coding gene	gene with protein product		602945	"""transcriptional adaptor 3 (NGG1 homolog, yeast)-like"""	TADA3L		9674425, 11707411	Standard	NM_006354		Approved	FLJ20221, FLJ21329, ADA3, hADA3, NGG1	uc010hcn.2	O75528	OTTHUMG00000128440	ENST00000301964.2:c.302C>A	3.37:g.9831553G>T	ENSP00000307684:p.Pro101His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FI83|Q9UFS2	Missense_Mutation	SNP	pfam_Histone_AcTrfase_su3	p.P101H	ENST00000301964.2	37	c.302	CCDS2583.1	3	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193441	0.58017	.	.	ENSG00000171148	ENST00000301964;ENST00000440161;ENST00000343450	.	.	.	5.53	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.59972	0.2233	L	0.61218	1.895	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.57757	-0.7756	9	0.44086	T	0.13	-8.7753	14.3783	0.66895	0.0713:0.0:0.9287:0.0	.	101	O75528	TADA3_HUMAN	H	101	.	ENSP00000307684:P101H	P	-	2	0	TADA3	9806553	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.049000	0.93837	1.333000	0.45449	-0.140000	0.14226	CCC	TADA3	-	NULL		0.547	TADA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA3	HGNC	protein_coding	OTTHUMT00000250236.1	G			9831553	-1	no_errors	ENST00000301964	ensembl	human	known	70_37	missense	SNP	1.000	T
TAOK3	51347	genome.wustl.edu	37	12	118675938	118675938	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr12:118675938G>A	ENST00000392533.3	-	7	867	c.377C>T	c.(376-378)gCc>gTc	p.A126V	TAOK3_ENST00000419821.2_Missense_Mutation_p.A126V	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	126	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGAGTAATGGCAGCGATCTC	0.368																																																	0													155.0	138.0	144.0					12																	118675938		2203	4300	6503	SO:0001583	missense	51347			AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.377C>T	12.37:g.118675938G>A	ENSP00000376317:p.Ala126Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	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.A126V	ENST00000392533.3	37	c.377	CCDS9188.1	12	.	.	.	.	.	.	.	.	.	.	G	29.3	4.996639	0.93167	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000538601;ENST00000535570	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.15	5.15	0.70609	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.46541	0.1398	N	0.04018	-0.295	0.80722	D	1	P	0.42518	0.782	B	0.41619	0.361	T	0.60120	-0.7325	10	0.87932	D	0	.	18.9948	0.92809	0.0:0.0:1.0:0.0	.	126	Q9H2K8	TAOK3_HUMAN	V	126;126;24;126	ENSP00000416374:A126V;ENSP00000376317:A126V;ENSP00000437389:A24V;ENSP00000443465:A126V	ENSP00000376317:A126V	A	-	2	0	TAOK3	117160321	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.679000	0.98649	2.562000	0.86427	0.655000	0.94253	GCC	TAOK3	-	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		0.368	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK3	HGNC	protein_coding	OTTHUMT00000401456.2	G	NM_016281		118675938	-1	no_errors	ENST00000392533	ensembl	human	known	70_37	missense	SNP	1.000	A
TAS2R1	50834	genome.wustl.edu	37	5	9630024	9630024	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr5:9630024delT	ENST00000382492.2	-	1	439	c.121delA	c.(121-123)atgfs	p.M41fs	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	41					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AGCGGAGCCATTTTTCTGTGC	0.373																																																	0													59.0	63.0	62.0					5																	9630024		2203	4300	6503	SO:0001589	frameshift_variant	50834			AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.121delA	5.37:g.9630024delT	ENSP00000371932:p.Met41fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q646G8	Frame_Shift_Del	DEL	pfam_TAS2_rcpt	p.M41fs	ENST00000382492.2	37	c.121	CCDS3876.1	5																																																																																			TAS2R1	-	pfam_TAS2_rcpt		0.373	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R1	HGNC	protein_coding	OTTHUMT00000206988.2	T			9630024	-1	no_errors	ENST00000382492	ensembl	human	known	70_37	frame_shift_del	DEL	0.000	-
TCF25	22980	genome.wustl.edu	37	16	89971470	89971470	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr16:89971470G>A	ENST00000263346.8	+	14	1650	c.1594G>A	c.(1594-1596)Gcc>Acc	p.A532T	TCF25_ENST00000263347.7_Missense_Mutation_p.A297T|RP11-566K11.7_ENST00000570217.1_RNA	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	532					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		AGCAGTGGACGCCGGGGACCC	0.632																																																	0													28.0	34.0	32.0					16																	89971470		2191	4294	6485	SO:0001583	missense	22980			AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.1594G>A	16.37:g.89971470G>A	ENSP00000263346:p.Ala532Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2MK75|Q9UPV3	Missense_Mutation	SNP	pfam_TCF25	p.A532T	ENST00000263346.8	37	c.1594	CCDS10987.1	16	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328381	0.24080	.	.	ENSG00000141002	ENST00000263346;ENST00000263347	.	.	.	5.7	2.49	0.30216	.	0.271858	0.42294	D	0.000740	T	0.29061	0.0722	L	0.33668	1.02	0.27771	N	0.943506	P;P	0.35807	0.522;0.492	B;B	0.30495	0.116;0.11	T	0.06338	-1.0832	9	0.31617	T	0.26	.	13.3493	0.60593	0.0:0.0:0.5393:0.4607	.	297;532	Q9H384;Q9BQ70	.;TCF25_HUMAN	T	532;297	.	ENSP00000263346:A532T	A	+	1	0	TCF25	88498971	0.033000	0.19621	0.009000	0.14445	0.030000	0.12068	0.366000	0.20365	0.248000	0.21435	0.591000	0.81541	GCC	TCF25	-	pfam_TCF25		0.632	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF25	HGNC	protein_coding	OTTHUMT00000272875.2	G	NM_014972		89971470	+1	no_errors	ENST00000263346	ensembl	human	known	70_37	missense	SNP	0.411	A
TM9SF2	9375	genome.wustl.edu	37	13	100181813	100181814	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr13:100181813_100181814insA	ENST00000376387.4	+	4	616_617	c.426_427insA	c.(427-429)aaafs	p.K143fs	TM9SF2_ENST00000463709.1_3'UTR	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	143					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TAGAATTCTTGAAAAAAAGCAT	0.312																																																	0																																										SO:0001589	frameshift_variant	9375			U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.433dupA	13.37:g.100181820_100181820dupA	ENSP00000365567:p.Lys143fs	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K399|Q2TAY5	Frame_Shift_Ins	INS	pfam_EMP70	p.S144fs	ENST00000376387.4	37	c.426_427	CCDS9493.1	13																																																																																			TM9SF2	-	pfam_EMP70		0.312	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM9SF2	HGNC	protein_coding	OTTHUMT00000045602.3	-			100181814	+1	no_errors	ENST00000376387	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	A
TNXB	7148	genome.wustl.edu	37	6	32049424	32049424	+	Frame_Shift_Del	DEL	G	G	-	rs376472382		TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr6:32049424delG	ENST00000375244.3	-	10	3964	c.3763delC	c.(3763-3765)cgcfs	p.R1255fs	TNXB_ENST00000375247.2_Frame_Shift_Del_p.R1255fs			P22105	TENX_HUMAN	tenascin XB	1342	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AACTCAGGGCGGGGGGGCTCC	0.637																																																	0													11.0	11.0	11.0					6																	32049424		1865	4099	5964	SO:0001589	frameshift_variant	7148			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.3763delC	6.37:g.32049424delG	ENSP00000364393:p.Arg1255fs	Somatic		WXS	Illumina HiSeq	Phase_IV	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Frame_Shift_Del	DEL	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.R1255fs	ENST00000375244.3	37	c.3763		6																																																																																			TNXB	-	superfamily_Fibronectin_type3		0.637	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	G	NM_019105		32049424	-1	no_errors	ENST00000375247	ensembl	human	known	70_37	frame_shift_del	DEL	0.009	-
TP73	7161	genome.wustl.edu	37	1	3649571	3649571	+	Silent	SNP	C	C	T			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr1:3649571C>T	ENST00000378295.4	+	14	1994	c.1839C>T	c.(1837-1839)ggC>ggT	p.G613G	TP73_ENST00000346387.4_Silent_p.G517G|TP73_ENST00000378290.4_Silent_p.G542G|TP73_ENST00000604479.1_Silent_p.G517G|TP73_ENST00000378288.4_Silent_p.G564G|TP73-AS1_ENST00000452079.1_RNA|TP73_ENST00000603362.1_Silent_p.G532G|TP73_ENST00000378280.1_3'UTR|TP73_ENST00000604074.1_3'UTR|TP73_ENST00000357733.3_Silent_p.G532G|TP73-AS1_ENST00000418088.1_RNA|TP73_ENST00000354437.4_3'UTR|TP73_ENST00000378285.1_3'UTR	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	613					activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CGGACTTCGGCTTCGACCTGC	0.701																																																	0													14.0	18.0	17.0					1																	3649571		2161	4234	6395	SO:0001819	synonymous_variant	7161			AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.1839C>T	1.37:g.3649571C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Silent	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.G613	ENST00000378295.4	37	c.1839	CCDS49.1	1																																																																																			TP73	-	NULL		0.701	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP73	HGNC	protein_coding	OTTHUMT00000001468.4	C	NM_005427		3649571	+1	no_errors	ENST00000378295	ensembl	human	known	70_37	silent	SNP	1.000	T
TRAPPC8	22878	genome.wustl.edu	37	18	29522913	29522914	+	5'UTR	INS	-	-	C			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr18:29522913_29522914insC	ENST00000283351.4	-	0	149_150				TRAPPC8_ENST00000582539.1_Splice_Site|TRAPPC8_ENST00000584876.1_5'UTR|TRAPPC8_ENST00000582513.1_5'UTR|RP11-326K13.4_ENST00000580420.1_RNA	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8						vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CAATCCACTGACCCCCCCCTTC	0.678																																																	0																																										SO:0001623	5_prime_UTR_variant	22878			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.-187->G	18.37:g.29522921_29522921dupC		Somatic		WXS	Illumina HiSeq	Phase_IV	A0JP15|B3KME5|Q9H0L2	Splice_Site	INS	-	e0+1	ENST00000283351.4	37	c.1+1_0	CCDS11901.1	18																																																																																			TRAPPC8	-	-		0.678	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	TRAPPC8	HGNC	protein_coding	OTTHUMT00000255355.1	-	NM_014939		29522914	-1	no_errors	ENST00000582539	ensembl	human	putative	70_37	splice_site_ins	INS	0.002:0.006	C
TRMT10A	93587	genome.wustl.edu	37	4	100480442	100480443	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr4:100480442_100480443insT	ENST00000273962.3	-	2	365_366	c.53_54insA	c.(52-54)aagfs	p.K18fs	TRMT10A_ENST00000394877.3_Frame_Shift_Ins_p.K18fs|TRMT10A_ENST00000394876.2_Frame_Shift_Ins_p.K18fs	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	18					magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										TTATGCCTTGCTTTTTGTCAAC	0.337																																																	0																																										SO:0001589	frameshift_variant	93587			BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"""RNA (guanine-9-) methyltransferase domain containing 2"""	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.54dupA	4.37:g.100480447_100480447dupT	ENSP00000273962:p.Lys18fs	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8X7|Q9Y2T9	Frame_Shift_Ins	INS	pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10	p.Q19fs	ENST00000273962.3	37	c.54_53	CCDS3650.1	4																																																																																			TRMT10A	-	pirsf_tRNA_MeTfrase_TRM10		0.337	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT10A	HGNC	protein_coding	OTTHUMT00000253668.1	-	NM_152292		100480443	-1	no_errors	ENST00000273962	ensembl	human	known	70_37	frame_shift_ins	INS	0.261:0.390	T
TSPEAR	54084	genome.wustl.edu	37	21	45987772	45987773	+	Frame_Shift_Ins	INS	-	-	G	rs587631627		TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr21:45987772_45987773insG	ENST00000323084.4	-	2	264_265	c.199_200insC	c.(199-201)cgcfs	p.R67fs	TSPEAR_ENST00000397916.1_5'UTR	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	67	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GCTCATGGTGCGGGGGGCGGCT	0.564																																																	0																																										SO:0001589	frameshift_variant	54084			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.200dupC	21.37:g.45987778_45987778dupG	ENSP00000321987:p.Arg67fs	Somatic		WXS	Illumina HiSeq	Phase_IV		Frame_Shift_Ins	INS	pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR	p.R67fs	ENST00000323084.4	37	c.200_199	CCDS13712.1	21																																																																																			TSPEAR	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.564	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPEAR	HGNC	protein_coding	OTTHUMT00000098761.1	-	NM_144991		45987773	-1	no_errors	ENST00000323084	ensembl	human	known	70_37	frame_shift_ins	INS	0.067:0.978	G
TSSC4	10078	genome.wustl.edu	37	11	2424288	2424288	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr11:2424288G>A	ENST00000333256.6	+	3	868	c.425G>A	c.(424-426)cGg>cAg	p.R142Q	AC124057.5_ENST00000433035.1_RNA|TSSC4_ENST00000380992.1_Missense_Mutation_p.R78Q|TSSC4_ENST00000451491.2_Missense_Mutation_p.R142Q|TSSC4_ENST00000380996.5_Missense_Mutation_p.R78Q			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	142										endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGGCCCATCGGAGCCCTGCC	0.667																																																	0													13.0	15.0	14.0					11																	2424288		2186	4288	6474	SO:0001583	missense	10078			AF125568	CCDS7735.1, CCDS73241.1	11p15.5	2008-02-05			ENSG00000184281	ENSG00000184281			12386	protein-coding gene	gene with protein product		603852				10072438	Standard	XM_005252722		Approved		uc001lwl.3	Q9Y5U2	OTTHUMG00000009895	ENST00000333256.6:c.425G>A	11.37:g.2424288G>A	ENSP00000331087:p.Arg142Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JS66|Q86VL2|Q9BRS6	Missense_Mutation	SNP	NULL	p.R142Q	ENST00000333256.6	37	c.425	CCDS7735.1	11	.	.	.	.	.	.	.	.	.	.	G	0.102	-1.150755	0.01700	.	.	ENSG00000184281	ENST00000380996;ENST00000333256;ENST00000380992;ENST00000437110;ENST00000440813;ENST00000496468;ENST00000451491	T;T;T;T;T;T;T	0.45668	2.22;2.48;0.89;1.51;1.91;1.52;2.48	2.84	0.706	0.18133	.	1.377000	0.05622	N	0.580169	T	0.16642	0.0400	N	0.03324	-0.35	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.01281	0.0;0.0	T	0.21930	-1.0231	10	0.08599	T	0.76	-5.0421	3.2083	0.06674	0.5282:0.2311:0.2408:0.0	.	142;78	Q9Y5U2;Q9Y5U2-2	TSSC4_HUMAN;.	Q	78;142;78;142;78;142;142	ENSP00000370384:R78Q;ENSP00000331087:R142Q;ENSP00000370380:R78Q;ENSP00000396925:R142Q;ENSP00000416937:R78Q;ENSP00000435013:R142Q;ENSP00000411224:R142Q	ENSP00000331087:R142Q	R	+	2	0	TSSC4	2380864	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-0.024000	0.12435	0.171000	0.19730	-0.369000	0.07265	CGG	TSSC4	-	NULL		0.667	TSSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSC4	HGNC	protein_coding	OTTHUMT00000027369.3	G	NM_005706		2424288	+1	no_errors	ENST00000333256	ensembl	human	known	70_37	missense	SNP	0.003	A
TULP4	56995	genome.wustl.edu	37	6	158923715	158923715	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr6:158923715delC	ENST00000367097.3	+	13	4377	c.3020delC	c.(3019-3021)gccfs	p.A1007fs	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1007					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		AGCCCGCGGGCCCCCCTGCAG	0.701																																																	0													6.0	8.0	7.0					6																	158923715		2011	4042	6053	SO:0001589	frameshift_variant	56995				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.3020delC	6.37:g.158923715delC	ENSP00000356064:p.Ala1007fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Frame_Shift_Del	DEL	pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1009fs	ENST00000367097.3	37	c.3020	CCDS34561.1	6																																																																																			TULP4	-	NULL		0.701	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	HGNC	protein_coding	OTTHUMT00000042869.1	C	NM_020245		158923715	+1	no_errors	ENST00000367097	ensembl	human	known	70_37	frame_shift_del	DEL	0.925	-
TBC1D31	93594	genome.wustl.edu	37	8	124140521	124140521	+	Splice_Site	DEL	T	T	-	rs570441854		TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr8:124140521delT	ENST00000287380.1	+	14	1975	c.1885delT	c.(1885-1887)ttt>tt	p.F631fs	TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000522420.1_Splice_Site_p.F526fs|TBC1D31_ENST00000378080.2_Splice_Site_p.F526fs|TBC1D31_ENST00000327098.5_Splice_Site_p.F631fs|TBC1D31_ENST00000521676.1_Splice_Site_p.F508fs|TBC1D31_ENST00000309336.3_Splice_Site_p.F631fs	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	631						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										TTTCTTACAGTTTTTTTTTCA	0.323																																																	0													76.0	76.0	76.0					8																	124140521		2203	4300	6503	SO:0001630	splice_region_variant	93594			AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.1885-1T>-	8.37:g.124140521delT		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Frame_Shift_Del	DEL	pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom	p.H632fs	ENST00000287380.1	37	c.1885	CCDS6338.1	8																																																																																			WDR67	-	superfamily_Rab-GTPase-TBC_dom		0.323	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR67	HGNC	protein_coding	OTTHUMT00000381721.1	T	NM_145647	Frame_Shift_Del	124140521	+1	no_errors	ENST00000287380	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
WDR90	197335	genome.wustl.edu	37	16	707790	707790	+	Silent	SNP	G	G	A			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr16:707790G>A	ENST00000293879.4	+	21	2502	c.2502G>A	c.(2500-2502)gcG>gcA	p.A834A	WDR90_ENST00000549091.1_Silent_p.A834A|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	834										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				ATGCCCCCGCGAGCCCCAGCG	0.716																																																	0													9.0	12.0	11.0					16																	707790		1921	4071	5992	SO:0001819	synonymous_variant	197335			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.2502G>A	16.37:g.707790G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A834	ENST00000293879.4	37	c.2502	CCDS42092.1	16																																																																																			WDR90	-	superfamily_WD40_repeat_dom		0.716	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR90	HGNC	protein_coding	OTTHUMT00000404335.1	G	NM_145294		707790	+1	no_errors	ENST00000549091	ensembl	human	novel	70_37	silent	SNP	0.000	A
XRCC6	2547	genome.wustl.edu	37	22	42042909	42042910	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr22:42042909_42042910insAA	ENST00000359308.4	+	6	1438_1439	c.783_784insAA	c.(784-786)aagfs	p.K262fs	XRCC6_ENST00000405878.1_Frame_Shift_Ins_p.K262fs|XRCC6_ENST00000405506.1_Frame_Shift_Ins_p.K212fs|Y_RNA_ENST00000363462.1_RNA|XRCC6_ENST00000428575.2_Frame_Shift_Ins_p.K129fs|XRCC6_ENST00000402580.3_Frame_Shift_Ins_p.K221fs|XRCC6_ENST00000360079.3_Frame_Shift_Ins_p.K262fs			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	262	Ku.				brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)	p.L261L(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						GGTTAAAGCTGAAGCTCAACAA	0.386								Non-homologous end-joining																																									1	Substitution - coding silent(1)	lung(1)																																								SO:0001589	frameshift_variant	2547			J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"""Ku autoantigen, 70kDa"""	152690	"""thyroid autoantigen 70kD (Ku antigen)"", ""thyroid autoantigen 70kDa (Ku antigen)"""	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.784_785dupAA	22.37:g.42042910_42042911dupAA	ENSP00000352257:p.Lys262fs	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Frame_Shift_Ins	INS	pirsf_DNA_helicase_ATP-dep_Ku70,pfam_Ku_N,pfam_DNA_helicase_ATP-dep_Ku,pfam_Ku_C,pfam_SAP_DNA-bd,superfamily_SPOC-like,smart_DNA_helicase_ATP-dep_Ku,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd,tigrfam_DNA_helicase_ATP-dep_Ku70	p.L262fs	ENST00000359308.4	37	c.783_784	CCDS14021.1	22																																																																																			XRCC6	-	pirsf_DNA_helicase_ATP-dep_Ku70,pfam_DNA_helicase_ATP-dep_Ku,superfamily_SPOC-like,tigrfam_DNA_helicase_ATP-dep_Ku70		0.386	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	XRCC6	HGNC	protein_coding	OTTHUMT00000321688.1	-	NM_001469		42042910	+1	no_errors	ENST00000359308	ensembl	human	known	70_37	frame_shift_ins	INS	0.444:0.469	AA
ZFHX3	463	genome.wustl.edu	37	16	72830806	72830807	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr16:72830806_72830807insC	ENST00000268489.5	-	9	6446_6447	c.5774_5775insG	c.(5773-5775)ggtfs	p.G1925fs	ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.G1011fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1925					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G1925G(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTCAGAACCACCCCCTGGTGC	0.589																																																	1	Substitution - coding silent(1)	kidney(1)																																								SO:0001589	frameshift_variant	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.5775dupG	16.37:g.72830811_72830811dupC	ENSP00000268489:p.Gly1925fs	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWS8|O15101|Q13719	Frame_Shift_Ins	INS	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.G1926fs	ENST00000268489.5	37	c.5775_5774	CCDS10908.1	16																																																																																			ZFHX3	-	NULL		0.589	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	-	NM_006885		72830807	-1	no_errors	ENST00000268489	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.000	C
ZNF440	126070	genome.wustl.edu	37	19	11942915	11942916	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr19:11942915_11942916insA	ENST00000304060.5	+	4	1088_1089	c.924_925insA	c.(925-927)aaafs	p.K309fs		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	309					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCCACTCTAGGAAAAATCTCTA	0.396																																																	0																																										SO:0001589	frameshift_variant	126070			AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.929dupA	19.37:g.11942920_11942920dupA	ENSP00000305373:p.Lys309fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N1R9	Frame_Shift_Ins	INS	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.N309fs	ENST00000304060.5	37	c.924_925	CCDS42503.1	19																																																																																			ZNF440	-	pfscan_Znf_C2H2		0.396	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF440	HGNC	protein_coding	OTTHUMT00000344508.1	-	NM_152357		11942916	+1	no_errors	ENST00000304060	ensembl	human	known	70_37	frame_shift_ins	INS	0.999:1.000	A
ZNF527	84503	genome.wustl.edu	37	19	37879760	37879760	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr19:37879760G>A	ENST00000436120.2	+	5	916	c.809G>A	c.(808-810)gGa>gAa	p.G270E	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	270					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACTCATTTTGGAAAATTACCC	0.378																																																	0													114.0	104.0	107.0					19																	37879760		1914	4148	6062	SO:0001583	missense	84503			AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.809G>A	19.37:g.37879760G>A	ENSP00000390179:p.Gly270Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DVL5	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.G270E	ENST00000436120.2	37	c.809	CCDS42559.1	19	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486430	0.63962	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	4.19	0.564	0.17302	.	0.488998	0.15386	N	0.265083	T	0.61098	0.2320	M	0.87328	2.875	0.58432	D	0.999998	B;B	0.23185	0.081;0.056	B;B	0.24848	0.041;0.056	T	0.61068	-0.7137	9	0.72032	D	0.01	.	3.7526	0.08572	0.0944:0.1624:0.5757:0.1675	.	270;238	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	E	270;238;218	.	ENSP00000325231:G238E	G	+	2	0	ZNF527	42571600	1.000000	0.71417	0.002000	0.10522	0.970000	0.65996	3.201000	0.51059	0.411000	0.25702	0.655000	0.94253	GGA	ZNF527	-	NULL		0.378	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF527	HGNC	protein_coding	OTTHUMT00000458434.1	G	NM_032453		37879760	+1	no_errors	ENST00000436120	ensembl	human	known	70_37	missense	SNP	0.730	A
ZSCAN20	7579	genome.wustl.edu	37	1	33960712	33960712	+	Missense_Mutation	SNP	G	G	A	rs200183584		TCGA-EA-A410-01A-11D-A243-09	TCGA-EA-A410-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e61d3ec2-0e57-49d6-9def-db06fbd63f1a	fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe	g.chr1:33960712G>A	ENST00000361328.3	+	8	2921	c.2768G>A	c.(2767-2769)cGc>cAc	p.R923H		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	923					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AACCACCAGCGCACCCACACT	0.517																																																	0													66.0	78.0	74.0					1																	33960712		2150	4272	6422	SO:0001583	missense	7579			X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2768G>A	1.37:g.33960712G>A	ENSP00000355053:p.Arg923His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R923H	ENST00000361328.3	37	c.2768	CCDS41300.1	1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.453592	0.84209	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.66	4.75	0.60458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000082	T	0.76933	0.4057	M	0.69523	2.12	0.41843	D	0.990138	D;D	0.89917	1.0;1.0	D;D	0.97110	0.98;1.0	T	0.79852	-0.1628	9	0.87932	D	0	-11.1013	12.5925	0.56451	0.0806:0.0:0.9194:0.0	.	922;923	P17040-3;P17040	.;ZSC20_HUMAN	H	923;857;857	.	ENSP00000324450:R923H	R	+	2	0	ZSCAN20	33733299	0.965000	0.33210	0.998000	0.56505	0.948000	0.59901	4.881000	0.63114	1.376000	0.46267	0.655000	0.94253	CGC	ZSCAN20	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.517	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN20	HGNC	protein_coding	OTTHUMT00000277003.2	G	NM_145238		33960712	+1	no_errors	ENST00000326544	ensembl	human	known	70_37	missense	SNP	0.999	A
