#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AFF1	4299	genome.wustl.edu	37	4	87967342	87967342	+	Silent	SNP	G	G	A			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr4:87967342G>A	ENST00000307808.6	+	2	462	c.42G>A	c.(40-42)ctG>ctA	p.L14L	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Silent_p.L21L	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	14					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		ACAGAAACCTGCTTCGAATTA	0.403																																						dbGAP											0													100.0	98.0	99.0					4																	87967342		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.42G>A	4.37:g.87967342G>A			B4DTU1|E9PBM3	Silent	SNP	pfam_TF_AF4/FMR2	p.L21	ENST00000307808.6	37	c.63	CCDS3616.1	4																																																																																			AFF1	-	pfam_TF_AF4/FMR2	ENSG00000172493		0.403	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AFF1	HGNC	protein_coding	OTTHUMT00000253053.3	456	0.00	0	G	NM_005935		87967342	87967342	+1	no_errors	ENST00000395146	ensembl	human	known	69_37n	silent	96	65.59	183	SNP	1.000	A
AGBL5	60509	genome.wustl.edu	37	2	27293023	27293026	+	Frame_Shift_Del	DEL	TCTA	TCTA	-	rs200990404|rs192393351|rs200219581	byFrequency	TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	TCTA	TCTA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr2:27293023_27293026delTCTA	ENST00000360131.4	+	15	2712_2715	c.2553_2556delTCTA	c.(2551-2556)agtctafs	p.SL851fs		NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	851					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATCCTGTAGTCTATCTGACTCCC	0.564																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.2553_2556delTCTA	2.37:g.27293023_27293026delTCTA	ENSP00000353249:p.Ser851fs		A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Frame_Shift_Del	DEL	pfam_Peptidase_M14	p.S853fs	ENST00000360131.4	37	c.2553_2556	CCDS1732.3	2																																																																																			AGBL5	-	NULL	ENSG00000084693		0.564	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGBL5	HGNC	protein_coding	OTTHUMT00000309033.1	117	0.00	0	TCTA	NM_021831		27293023	27293026	+1	no_errors	ENST00000360131	ensembl	human	known	69_37n	frame_shift_del	51	10.17	6	DEL	0.984:0.972:0.932:0.075	-
ANKS4B	257629	genome.wustl.edu	37	16	21261779	21261779	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr16:21261779C>A	ENST00000311620.5	+	2	965	c.892C>A	c.(892-894)Ctg>Atg	p.L298M		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	298					response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		TGGTTTTAAACTGCCCAGTGA	0.458																																						dbGAP											0													99.0	104.0	102.0					16																	21261779		2001	4182	6183	-	-	-	SO:0001583	missense	0			AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26795	protein-coding gene	gene with protein product		609901					Standard	NM_145865		Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.892C>A	16.37:g.21261779C>A	ENSP00000308772:p.Leu298Met			Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L298M	ENST00000311620.5	37	c.892	CCDS42130.1	16	.	.	.	.	.	.	.	.	.	.	C	0.280	-0.987132	0.02180	.	.	ENSG00000175311	ENST00000311620	T	0.46063	0.88	5.98	2.52	0.30459	.	0.269698	0.45606	N	0.000344	T	0.14141	0.0342	N	0.01505	-0.83	0.28384	N	0.919418	B	0.02656	0.0	B	0.04013	0.001	T	0.24693	-1.0153	10	0.14656	T	0.56	-8.9707	8.0316	0.30467	0.6633:0.269:0.0677:0.0	.	298	Q8N8V4	ANS4B_HUMAN	M	298	ENSP00000308772:L298M	ENSP00000308772:L298M	L	+	1	2	ANKS4B	21169280	1.000000	0.71417	0.333000	0.25482	0.454000	0.32378	2.364000	0.44187	0.161000	0.19458	-0.485000	0.04761	CTG	ANKS4B	-	NULL	ENSG00000175311		0.458	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS4B	HGNC	protein_coding	OTTHUMT00000436535.1	170	0.00	0	C	NM_145865		21261779	21261779	+1	no_errors	ENST00000311620	ensembl	human	known	69_37n	missense	115	41.62	82	SNP	0.064	A
ARMC3	219681	genome.wustl.edu	37	10	23326258	23326258	+	Silent	SNP	G	G	A			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr10:23326258G>A	ENST00000298032.5	+	19	2553	c.2469G>A	c.(2467-2469)gcG>gcA	p.A823A	ARMC3_ENST00000376528.4_Silent_p.A560A|ARMC3_ENST00000409983.3_Silent_p.A816A	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	823						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACGGTAGAGCGTGGAATGAAG	0.542																																						dbGAP											0													123.0	116.0	118.0					10																	23326258		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.2469G>A	10.37:g.23326258G>A			A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Silent	SNP	pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.A823	ENST00000298032.5	37	c.2469	CCDS7142.1	10																																																																																			ARMC3	-	NULL	ENSG00000165309		0.542	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARMC3	HGNC	protein_coding	OTTHUMT00000047197.2	67	0.00	0	G	NM_173081		23326258	23326258	+1	no_errors	ENST00000298032	ensembl	human	known	69_37n	silent	51	16.39	10	SNP	0.174	A
ASH2L	9070	genome.wustl.edu	37	8	37996363	37996363	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr8:37996363G>T	ENST00000343823.6	+	15	2058	c.1749G>T	c.(1747-1749)aaG>aaT	p.K583N	ASH2L_ENST00000521652.1_Missense_Mutation_p.K456N|ASH2L_ENST00000250635.7_Missense_Mutation_p.K456N|ASH2L_ENST00000428278.2_Missense_Mutation_p.K489N|ASH2L_ENST00000545394.1_Missense_Mutation_p.K444N	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	583	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				CATGCTTCAAGTATCCTCCGA	0.428																																						dbGAP											0													181.0	165.0	171.0					8																	37996363		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"""Zinc fingers, PHD-type"""	744	protein-coding gene	gene with protein product		604782	"""ash2 (absent, small, or homeotic, Drosophila, homolog)-like"""	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.1749G>T	8.37:g.37996363G>T	ENSP00000340896:p.Lys583Asn		A8K7C3|D3DSW9|O60659|O60660|Q96B62	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	p.K583N	ENST00000343823.6	37	c.1749	CCDS6101.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.082628|4.082628	0.76528|0.76528	.|.	.|.	ENSG00000129691|ENSG00000129691	ENST00000343823;ENST00000250635;ENST00000545394;ENST00000428278;ENST00000521652|ENST00000524247	T;T;T;T;T|.	0.80994|.	-0.8;-1.44;-0.8;-0.8;-1.44|.	5.77|5.77	4.89|4.89	0.63831|0.63831	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);|.	0.040161|.	0.85682|.	D|.	0.000000|.	T|T	0.74718|0.74718	0.3753|0.3753	M|M	0.82323|0.82323	2.585|2.585	0.58432|0.58432	D|D	0.999999|0.999999	D;P|.	0.58268|.	0.982;0.906|.	D;P|.	0.64776|.	0.929;0.521|.	T|T	0.76323|0.76323	-0.3001|-0.3001	10|5	0.56958|.	D|.	0.05|.	.|.	11.0286|11.0286	0.47759|0.47759	0.1503:0.0:0.8497:0.0|0.1503:0.0:0.8497:0.0	.|.	456;583|.	Q9UBL3-2;Q9UBL3|.	.;ASH2L_HUMAN|.	N|L	583;456;444;489;456|179	ENSP00000340896:K583N;ENSP00000250635:K456N;ENSP00000443606:K444N;ENSP00000395310:K489N;ENSP00000430259:K456N|.	ENSP00000250635:K456N|.	K|V	+|+	3|1	2|0	ASH2L|ASH2L	38115520|38115520	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	1.051000|1.051000	0.30417|0.30417	1.419000|1.419000	0.47118|0.47118	0.655000|0.655000	0.94253|0.94253	AAG|GTA	ASH2L	-	superfamily_ConA-like_lec_gl,pfscan_B30.2/SPRY	ENSG00000129691		0.428	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASH2L	HGNC	protein_coding	OTTHUMT00000376749.4	309	0.00	0	G	NM_004674		37996363	37996363	+1	no_errors	ENST00000343823	ensembl	human	known	69_37n	missense	224	21.13	60	SNP	1.000	T
BRF1	2972	genome.wustl.edu	37	14	105695250	105695250	+	Splice_Site	SNP	G	G	A			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr14:105695250G>A	ENST00000546474.1	-	7	15654	c.695C>T	c.(694-696)gCg>gTg	p.A232V	BRF1_ENST00000379932.4_Splice_Site_p.A28V|BRF1_ENST00000446501.2_5'UTR|BRF1_ENST00000440513.3_Splice_Site_p.A117V|BRF1_ENST00000327359.3_Splice_Site_p.A117V|BRF1_ENST00000551787.1_Splice_Site_p.A28V|BRF1_ENST00000379937.2_Splice_Site_p.A205V|BRF1_ENST00000392557.4_Splice_Site_p.A28V	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	232					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		AACCAGGAGCGCTGGAAGGCA	0.602																																						dbGAP											0													230.0	204.0	213.0					14																	105695250		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"""General transcription factors"""	11551	protein-coding gene	gene with protein product		604902	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2"", ""BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"""	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.695-1C>T	14.37:g.105695250G>A			B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Missense_Mutation	SNP	pfam_TFIIB_cyclin,pfam_BRF1_TBP-bd,pfam_Znf_TFIIB,superfamily_Cyclin-like,smart_Cyclin-like,prints_TFIIB,pfscan_Znf_TFIIB	p.A232V	ENST00000546474.1	37	c.695	CCDS10001.1	14	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630620	0.67015	.	.	ENSG00000185024	ENST00000392557;ENST00000379937;ENST00000546474;ENST00000551787;ENST00000379932;ENST00000332890;ENST00000327359;ENST00000440513;ENST00000549655;ENST00000552127;ENST00000550208	.	.	.	5.15	5.15	0.70609	Transcription factor TFIIB, cyclin-related (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	D	0.87474	0.6186	H	0.96518	3.835	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.91334	0.5092	9	0.72032	D	0.01	.	16.143	0.81539	0.0:0.0:1.0:0.0	.	117;205;232	F5H5Z7;Q92994-5;Q92994	.;.;TF3B_HUMAN	V	28;205;232;28;28;28;117;117;28;28;28	.	ENSP00000329029:A117V	A	-	2	0	BRF1	104766295	1.000000	0.71417	0.532000	0.27989	0.004000	0.04260	8.878000	0.92393	2.397000	0.81536	0.591000	0.81541	GCG	BRF1	-	pfam_TFIIB_cyclin,superfamily_Cyclin-like,smart_Cyclin-like,prints_TFIIB	ENSG00000185024		0.602	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BRF1	HGNC	protein_coding	OTTHUMT00000074548.4	23	0.00	0	G	NM_001519	Missense_Mutation	105695250	105695250	-1	no_errors	ENST00000546474	ensembl	human	known	69_37n	missense	6	45.45	5	SNP	0.999	A
C16orf91	283951	genome.wustl.edu	37	16	1470148	1470148	+	3'UTR	SNP	G	G	C			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr16:1470148G>C	ENST00000442039.2	-	0	574				C16orf91_ENST00000310355.1_Silent_p.L289L|C16orf91_ENST00000563974.1_3'UTR	NM_001272051.1	NP_001258980.1	Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91							integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CTTCAGTGCTGAGGACGCACG	0.622																																						dbGAP											0													92.0	88.0	89.0					16																	1470148		2199	4300	6499	-	-	-	SO:0001624	3_prime_UTR_variant	0			BC023590	CCDS61789.1	16p13.3	2012-10-10			ENSG00000174109	ENSG00000174109			27558	protein-coding gene	gene with protein product	"""cattle cerebrum and skeletal muscle-specific protein 1 family member"""						Standard	NM_001272051		Approved	gs103, CCSMST1	uc002clr.4	Q4G0I0		ENST00000442039.2:c.*99C>G	16.37:g.1470148G>C			Q96RZ0	Silent	SNP	prints_CCSMST1	p.L289	ENST00000442039.2	37	c.867		16																																																																																			C16orf91	-	NULL	ENSG00000174109		0.622	C16orf91-001	KNOWN	basic|appris_principal	protein_coding	C16orf91	HGNC	protein_coding	OTTHUMT00000432502.1	75	0.00	0	G	NM_001010878		1470148	1470148	-1	no_errors	ENST00000310355	ensembl	human	known	69_37n	silent	34	39.29	22	SNP	0.000	C
C1orf101	257044	genome.wustl.edu	37	1	244798805	244798805	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr1:244798805C>T	ENST00000366534.4	+	21	2717	c.2663C>T	c.(2662-2664)aCa>aTa	p.T888I	C1orf101_ENST00000366531.3_Missense_Mutation_p.T737I|C1orf101_ENST00000366533.4_3'UTR	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	888						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TGTAACCTAACAGCTATGTTT	0.363																																						dbGAP											0													113.0	108.0	110.0					1																	244798805		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.2663C>T	1.37:g.244798805C>T	ENSP00000355492:p.Thr888Ile		B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	NULL	p.T888I	ENST00000366534.4	37	c.2663	CCDS44340.1	1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075318	0.36662	.	.	ENSG00000179397	ENST00000366534;ENST00000428042;ENST00000366531	T;T;T	0.25579	1.79;1.79;1.79	4.56	0.0189	0.14118	.	0.299857	0.28618	N	0.014719	T	0.33760	0.0874	L	0.55481	1.735	0.09310	N	1	D;D	0.71674	0.98;0.998	P;D	0.66351	0.773;0.943	T	0.09079	-1.0691	10	0.56958	D	0.05	.	2.938	0.05820	0.1745:0.3858:0.3403:0.0995	.	808;888	B1AQM6;Q5SY80	.;CA101_HUMAN	I	888;808;737	ENSP00000355492:T888I;ENSP00000395796:T808I;ENSP00000355489:T737I	ENSP00000355489:T737I	T	+	2	0	C1orf101	242865428	0.532000	0.26346	0.080000	0.20451	0.780000	0.44128	0.672000	0.25187	0.205000	0.20568	0.561000	0.74099	ACA	C1orf101	-	NULL	ENSG00000179397		0.363	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C1orf101	HGNC	protein_coding	OTTHUMT00000096701.1	90	0.00	0	C	NM_173807		244798805	244798805	+1	no_errors	ENST00000366534	ensembl	human	known	69_37n	missense	65	10.96	8	SNP	0.072	T
CCDC110	256309	genome.wustl.edu	37	4	186383863	186383863	+	Splice_Site	SNP	C	C	G			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr4:186383863C>G	ENST00000307588.3	-	4	247		c.e4-1		CCDC110_ENST00000393540.3_Splice_Site|CCDC110_ENST00000507501.1_Splice_Site|CCDC110_ENST00000510617.1_Splice_Site	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110							nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		GCTGAAGGACCTATGACAAAA	0.338																																						dbGAP											0													81.0	82.0	82.0					4																	186383863		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.172-1G>C	4.37:g.186383863C>G			Q86YI9|Q8N7W0	Splice_Site	SNP	-	e4-1	ENST00000307588.3	37	c.172-1	CCDS3843.1	4	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332333	0.60853	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617;ENST00000506876	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4704	0.87645	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC110	186620857	1.000000	0.71417	0.998000	0.56505	0.756000	0.42949	4.753000	0.62183	2.650000	0.89964	0.655000	0.94253	.	CCDC110	-	-	ENSG00000168491		0.338	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC110	HGNC	protein_coding	OTTHUMT00000360519.2	69	0.00	0	C	NM_152775	Intron	186383863	186383863	-1	no_errors	ENST00000307588	ensembl	human	known	69_37n	splice_site	12	63.64	21	SNP	1.000	G
CD2	914	genome.wustl.edu	37	1	117297341	117297341	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr1:117297341G>C	ENST00000369478.3	+	2	258	c.150G>C	c.(148-150)atG>atC	p.M50I	CD2_ENST00000369477.1_Missense_Mutation_p.M50I	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	50	Ig-like V-type.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|membrane raft polarization (GO:0001766)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of myeloid dendritic cell activation (GO:0030887)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of T cell differentiation (GO:0045580)|single organismal cell-cell adhesion (GO:0016337)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	GTTTTCAAATGAGTGATGATA	0.373																																					NSCLC(14;263 555 26380 43512 51332)	dbGAP											0													80.0	80.0	80.0					1																	117297341		2202	4300	6502	-	-	-	SO:0001583	missense	0			BC033583	CCDS889.1	1p13	2013-01-11	2006-03-28		ENSG00000116824	ENSG00000116824		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1639	protein-coding gene	gene with protein product		186990	"""CD2 antigen (p50), sheep red blood cell receptor"""	SRBC		2437578	Standard	NM_001767		Approved		uc001egu.4	P06729	OTTHUMG00000022750	ENST00000369478.3:c.150G>C	1.37:g.117297341G>C	ENSP00000358490:p.Met50Ile		Q96TE5	Missense_Mutation	SNP	pfam_Ig_C2-set,pfam_Ig_V-set,prints_T-cell_sdhesion_molc_CD2	p.M50I	ENST00000369478.3	37	c.150	CCDS889.1	1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.348833	0.24426	.	.	ENSG00000116824	ENST00000369478;ENST00000369477	T;T	0.65916	-0.18;-0.18	4.27	2.31	0.28768	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.199990	0.05756	N	0.604106	T	0.34658	0.0905	L	0.48642	1.525	0.09310	N	1	P;P;B	0.42296	0.762;0.775;0.356	B;B;B	0.37550	0.253;0.183;0.08	T	0.34800	-0.9814	10	0.72032	D	0.01	-4.0607	6.2829	0.21017	0.2416:0.0:0.7584:0.0	.	50;50;50	B4E0G3;B4DVN2;P06729	.;.;CD2_HUMAN	I	50	ENSP00000358490:M50I;ENSP00000358489:M50I	ENSP00000358489:M50I	M	+	3	0	CD2	117098864	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.328000	0.19681	0.505000	0.28104	0.563000	0.77884	ATG	CD2	-	pfam_Ig_V-set,prints_T-cell_sdhesion_molc_CD2	ENSG00000116824		0.373	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD2	HGNC	protein_coding	OTTHUMT00000059039.2	132	0.00	0	G	NM_001767		117297341	117297341	+1	no_errors	ENST00000369478	ensembl	human	known	69_37n	missense	48	53.85	56	SNP	0.000	C
COBLL1	22837	genome.wustl.edu	37	2	165551305	165551305	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr2:165551305G>C	ENST00000392717.2	-	13	2829	c.2825C>G	c.(2824-2826)tCt>tGt	p.S942C	COBLL1_ENST00000375458.2_Missense_Mutation_p.S866C|COBLL1_ENST00000409184.3_Missense_Mutation_p.S904C|COBLL1_ENST00000194871.6_Missense_Mutation_p.S971C|COBLL1_ENST00000342193.4_Missense_Mutation_p.S904C			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	942						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CAAAAAAAAAGAGCTGGGTTT	0.438																																						dbGAP											0													33.0	36.0	35.0					2																	165551305		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2825C>G	2.37:g.165551305G>C	ENSP00000376478:p.Ser942Cys		A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	pfam_Cordon-bleu_domain,pfscan_WH2_dom	p.S971C	ENST00000392717.2	37	c.2912		2	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971922	0.53614	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	6.03	6.03	0.97812	.	0.083077	0.53938	D	0.000060	T	0.77425	0.4128	M	0.66939	2.045	0.45066	D	0.998081	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.70487	0.938;0.955;0.969	T	0.78420	-0.2211	9	0.87932	D	0	-17.177	16.0955	0.81117	0.0:0.0:0.8656:0.1344	.	942;971;904	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	C	866;904;904;942;971	.	ENSP00000194871:S971C	S	-	2	0	COBLL1	165259551	1.000000	0.71417	0.997000	0.53966	0.469000	0.32828	6.287000	0.72671	2.854000	0.98071	0.655000	0.94253	TCT	COBLL1	-	NULL	ENSG00000082438		0.438	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	COBLL1	HGNC	protein_coding		88	0.00	0	G	NM_014900		165551305	165551305	-1	no_errors	ENST00000194871	ensembl	human	known	69_37n	missense	77	35.29	42	SNP	1.000	C
CREB1	1385	genome.wustl.edu	37	2	208434996	208434996	+	Silent	SNP	C	C	T			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr2:208434996C>T	ENST00000432329.2	+	6	749	c.498C>T	c.(496-498)acC>acT	p.T166T	CREB1_ENST00000430624.1_Silent_p.T152T|CREB1_ENST00000536726.1_Silent_p.T152T|CREB1_ENST00000353267.3_Silent_p.T152T|CREB1_ENST00000539789.1_Silent_p.T126T|CREB1_ENST00000374397.4_Intron	NM_134442.3	NP_604391.1	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	166					activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|cellular response to zinc ion (GO:0071294)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|lactation (GO:0007595)|lung saccule development (GO:0060430)|memory (GO:0007613)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription by competitive promoter binding (GO:0010944)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of cell size (GO:0008361)|response to drug (GO:0042493)|response to glucagon (GO:0033762)|response to organic substance (GO:0010033)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|Type I pneumocyte differentiation (GO:0060509)|viral process (GO:0016032)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding (GO:0035497)|enzyme binding (GO:0019899)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)		EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Naloxone(DB01183)	CTGCCATCACCACTGTAACGG	0.413			T	EWSR1	"""clear cell sarcoma, angiomatoid fibrous histiocytoma"""																																	dbGAP		Dom	yes		2	2q34	1385	cAMP responsive element binding protein 1		M	0													123.0	123.0	123.0					2																	208434996		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M27691	CCDS2374.1, CCDS2375.1	2q34	2013-01-10			ENSG00000118260	ENSG00000118260		"""basic leucine zipper proteins"""	2345	protein-coding gene	gene with protein product		123810					Standard	NM_134442		Approved		uc002vcc.3	P16220	OTTHUMG00000132936	ENST00000432329.2:c.498C>T	2.37:g.208434996C>T			P21934|Q6V963|Q9UMA7	Missense_Mutation	SNP	pfam_Coactivator_CBP_pKID,pfscan_Coactivator_CBP_pKID,prints_Leuzip_CREB	p.P99L	ENST00000432329.2	37	c.296	CCDS2375.1	2																																																																																			CREB1	-	NULL	ENSG00000118260		0.413	CREB1-001	KNOWN	basic|CCDS	protein_coding	CREB1	HGNC	protein_coding	OTTHUMT00000256467.3	267	0.00	0	C	NM_134442		208434996	208434996	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000418081	ensembl	human	known	69_37n	missense	206	26.16	73	SNP	0.998	T
COPS8	10920	genome.wustl.edu	37	2	237994668	237994668	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr2:237994668G>A	ENST00000354371.2	+	1	714	c.61G>A	c.(61-63)Gag>Aag	p.E21K	AC105760.2_ENST00000418430.1_RNA|COPS8_ENST00000409629.1_Missense_Mutation_p.E21K|COPS8_ENST00000392008.2_5'UTR|COPS8_ENST00000409334.1_Missense_Mutation_p.E21K	NM_006710.4	NP_006701.1	Q99627	CSN8_HUMAN	COP9 signalosome subunit 8	21					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cullin deneddylation (GO:0010388)|negative regulation of cell proliferation (GO:0008285)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)		Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258)		GGATCAGTGCGAGAACCAGGA	0.617																																						dbGAP											0													37.0	36.0	36.0					2																	237994668		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2517.1, CCDS42835.1	2q37.3	2013-03-14	2013-03-14		ENSG00000198612	ENSG00000198612			24335	protein-coding gene	gene with protein product			"""COP9 constitutive photomorphogenic homolog subunit 8 (Arabidopsis)"""			7634324, 12732143	Standard	NM_006710		Approved	COP9, CSN8, MGC1297, SGN8	uc002vwh.3	Q99627	OTTHUMG00000133297	ENST00000354371.2:c.61G>A	2.37:g.237994668G>A	ENSP00000346340:p.Glu21Lys		A8K1H6|Q53QS9	Missense_Mutation	SNP	pfam_COP9_signalosome_subunit_CSN8	p.E21K	ENST00000354371.2	37	c.61	CCDS2517.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.779330	0.96929	.	.	ENSG00000198612	ENST00000354371;ENST00000409334;ENST00000409629	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.62998	0.2474	L	0.32530	0.975	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.55161	0.77;0.77	T	0.65224	-0.6220	9	0.72032	D	0.01	.	19.0796	0.93177	0.0:0.0:1.0:0.0	.	21;21	B8ZZP3;Q99627	.;CSN8_HUMAN	K	21	.	ENSP00000346340:E21K	E	+	1	0	COPS8	237659407	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.278000	0.72614	2.810000	0.96702	0.650000	0.86243	GAG	COPS8	-	NULL	ENSG00000198612		0.617	COPS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COPS8	HGNC	protein_coding	OTTHUMT00000257082.3	9	0.00	0	G	NM_006710		237994668	237994668	+1	no_errors	ENST00000354371	ensembl	human	known	69_37n	missense	5	50.00	5	SNP	1.000	A
DIP2A	23181	genome.wustl.edu	37	21	47904738	47904738	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr21:47904738C>G	ENST00000417564.2	+	2	181	c.160C>G	c.(160-162)Caa>Gaa	p.Q54E	DIP2A_ENST00000400274.1_Missense_Mutation_p.Q54E|DIP2A_ENST00000466639.1_Missense_Mutation_p.Q54E|DIP2A_ENST00000457905.3_Missense_Mutation_p.Q54E|DIP2A_ENST00000427143.2_Intron|DIP2A_ENST00000435722.3_Missense_Mutation_p.Q54E|DIP2A_ENST00000318711.7_Missense_Mutation_p.Q54E			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	54	DMAP-interaction.				multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		ACCGCTTATTCAAGGTAAGGT	0.308																																						dbGAP											0													73.0	68.0	70.0					21																	47904738		1917	4156	6073	-	-	-	SO:0001583	missense	0			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.160C>G	21.37:g.47904738C>G	ENSP00000392066:p.Gln54Glu		A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.Q54E	ENST00000417564.2	37	c.160	CCDS46655.1	21	.	.	.	.	.	.	.	.	.	.	C	10.29	1.309090	0.23821	.	.	ENSG00000160305	ENST00000400274;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T	0.23552	1.95;1.94;1.94;1.9;1.94;1.94	5.95	5.05	0.67936	DMAP1-binding (1);	0.299368	0.27240	N	0.020265	T	0.19805	0.0476	N	0.25647	0.755	0.80722	D	1	B;B;B;B;B	0.22211	0.0;0.066;0.0;0.001;0.0	B;B;B;B;B	0.24394	0.005;0.053;0.003;0.005;0.005	T	0.03784	-1.1004	10	0.22706	T	0.39	-0.0319	14.8522	0.70306	0.0:0.8555:0.1445:0.0	.	54;54;54;54;54	E9PER1;Q14689-3;Q14689;Q14689-4;Q14689-2	.;.;DIP2A_HUMAN;.;.	E	54	ENSP00000383133:Q54E;ENSP00000323633:Q54E;ENSP00000393434:Q54E;ENSP00000430249:Q54E;ENSP00000415089:Q54E;ENSP00000392066:Q54E	ENSP00000323633:Q54E	Q	+	1	0	DIP2A	46729166	1.000000	0.71417	0.988000	0.46212	0.961000	0.63080	5.104000	0.64584	1.484000	0.48361	0.655000	0.94253	CAA	DIP2A	-	pfam_DMAP1-bd	ENSG00000160305		0.308	DIP2A-012	KNOWN	basic|CCDS	protein_coding	DIP2A	HGNC	protein_coding	OTTHUMT00000376736.1	24	0.00	0	C	NM_015151		47904738	47904738	+1	no_errors	ENST00000318711	ensembl	human	known	69_37n	missense	17	22.73	5	SNP	1.000	G
DNAJC6	9829	genome.wustl.edu	37	1	65855273	65855273	+	Nonsense_Mutation	SNP	C	C	A	rs139447717		TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr1:65855273C>A	ENST00000395325.3	+	11	1417	c.1260C>A	c.(1258-1260)taC>taA	p.Y420*	DNAJC6_ENST00000371069.4_Nonsense_Mutation_p.Y477*|DNAJC6_ENST00000263441.7_Nonsense_Mutation_p.Y407*	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	420					cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CCAGGCATTACGGACAAAGTG	0.398																																						dbGAP											0													179.0	165.0	169.0					1																	65855273		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.1260C>A	1.37:g.65855273C>A	ENSP00000378735:p.Tyr420*		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Nonsense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DnaJ_N,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N	p.Y477*	ENST00000395325.3	37	c.1431	CCDS30739.1	1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781918	0.70222	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	.	.	.	5.46	-5.76	0.02376	.	1.361810	0.04089	N	0.310893	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.815	0.05453	0.0939:0.1729:0.1892:0.544	.	.	.	.	X	407;420;477	.	ENSP00000263441:Y407X	Y	+	3	2	DNAJC6	65627861	0.079000	0.21365	0.006000	0.13384	0.127000	0.20565	0.046000	0.14035	-1.179000	0.02737	-1.619000	0.00793	TAC	DNAJC6	-	NULL	ENSG00000116675		0.398	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	DNAJC6	HGNC	protein_coding	OTTHUMT00000025134.1	321	0.00	0	C			65855273	65855273	+1	no_errors	ENST00000371069	ensembl	human	known	69_37n	nonsense	145	38.91	93	SNP	0.055	A
DNMBP	23268	genome.wustl.edu	37	10	101668763	101668763	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr10:101668763G>A	ENST00000324109.4	-	5	2492	c.2401C>T	c.(2401-2403)Cgg>Tgg	p.R801W	DNMBP_ENST00000342239.3_Missense_Mutation_p.R801W|DNMBP_ENST00000543621.1_Missense_Mutation_p.R47W	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	801	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCCAGATCCCGAATGTAGTCT	0.498																																						dbGAP											0													146.0	130.0	136.0					10																	101668763		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.2401C>T	10.37:g.101668763G>A	ENSP00000315659:p.Arg801Trp		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,prints_p67phox,prints_Spectrin_alpha_SH3,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain	p.R801W	ENST00000324109.4	37	c.2401	CCDS7485.1	10	.	.	.	.	.	.	.	.	.	.	G	18.49	3.636282	0.67130	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000370423;ENST00000422692	T;T;T;T	0.66815	-0.23;2.1;2.1;1.37	5.96	5.96	0.96718	Dbl homology (DH) domain (5);	0.000000	0.44688	D	0.000433	D	0.85535	0.5719	M	0.92367	3.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.971;0.999	D	0.88156	0.2854	10	0.87932	D	0	-27.3621	14.3337	0.66574	0.0:0.0:0.739:0.261	.	801;47;801	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	W	801;801;47;47;89;89	ENSP00000344914:R801W;ENSP00000315659:R801W;ENSP00000443657:R47W;ENSP00000409476:R89W	ENSP00000315659:R801W	R	-	1	2	DNMBP	101658753	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	5.422000	0.66453	2.826000	0.97356	0.655000	0.94253	CGG	DNMBP	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000107554		0.498	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMBP	HGNC	protein_coding	OTTHUMT00000049832.2	106	0.00	0	G	NM_015221		101668763	101668763	-1	no_errors	ENST00000342239	ensembl	human	known	69_37n	missense	40	40.30	27	SNP	1.000	A
DOCK7	85440	genome.wustl.edu	37	1	62970310	62970310	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr1:62970310C>G	ENST00000340370.5	-	36	4679	c.4662G>C	c.(4660-4662)gaG>gaC	p.E1554D	DOCK7_ENST00000251157.5_Missense_Mutation_p.E1576D	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1585					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CATTCCCAATCTCAAAGTTTT	0.388																																						dbGAP											0													75.0	73.0	73.0					1																	62970310		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.4662G>C	1.37:g.62970310C>G	ENSP00000340742:p.Glu1554Asp		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	pfam_DOCK,pfam_DUF3398,superfamily_ARM-type_fold	p.E1576D	ENST00000340370.5	37	c.4728	CCDS30734.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.46|18.46	3.629683|3.629683	0.67015|0.67015	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000454575|ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441	.|T;T	.|0.01963	.|4.53;4.53	5.41|5.41	2.23|2.23	0.28157|0.28157	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.09335|0.09335	0.0230|0.0230	M|M	0.75777|0.75777	2.31|2.31	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D;P;P	.|0.71674	.|0.99;0.993;0.998;0.998;0.936;0.863	.|P;D;D;D;P;P	.|0.81914	.|0.868;0.911;0.995;0.995;0.669;0.666	T|T	0.01007|0.01007	-1.1483|-1.1483	5|10	.|0.54805	.|T	.|0.06	.|.	8.0193|8.0193	0.30400|0.30400	0.0:0.6493:0.0:0.3507|0.0:0.6493:0.0:0.3507	.|.	.|1585;1576;1554;1545;1545;1576	.|Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.|DOCK7_HUMAN;.;.;.;.;.	H|D	748|1585;1576;1554;315	.|ENSP00000251157:E1576D;ENSP00000340742:E1554D	.|ENSP00000251157:E1576D	D|E	-|-	1|3	0|2	DOCK7|DOCK7	62742898|62742898	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.972000|0.972000	0.66771|0.66771	2.712000|2.712000	0.47186|0.47186	0.153000|0.153000	0.19213|0.19213	0.655000|0.655000	0.94253|0.94253	GAT|GAG	DOCK7	-	superfamily_ARM-type_fold	ENSG00000116641		0.388	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	HGNC	protein_coding	OTTHUMT00000036806.1	104	0.00	0	C	NM_033407		62970310	62970310	-1	no_errors	ENST00000251157	ensembl	human	known	69_37n	missense	55	45.54	46	SNP	1.000	G
DST	667	genome.wustl.edu	37	6	56482819	56482819	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr6:56482819C>T	ENST00000370765.6	-	23	6120	c.6013G>A	c.(6013-6015)Gaa>Aaa	p.E2005K	DST_ENST00000361203.3_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGTTCCATTTCACATGCGTTA	0.408																																						dbGAP											0													151.0	148.0	149.0					6																	56482819		2203	4300	6503	-	-	-	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.6013G>A	6.37:g.56482819C>T	ENSP00000359801:p.Glu2005Lys		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.E2005K	ENST00000370765.6	37	c.6013	CCDS4959.1	6	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991382	0.74703	.	.	ENSG00000151914	ENST00000370765	T	0.32272	1.46	5.49	5.49	0.81192	.	.	.	.	.	T	0.24774	0.0601	.	.	.	0.18873	N	0.999988	P	0.52061	0.95	P	0.49502	0.613	T	0.04216	-1.0968	7	0.38643	T	0.18	.	12.6938	0.56992	0.0:0.9244:0.0:0.0756	.	2005	Q03001-3	.	K	2005	ENSP00000359801:E2005K	ENSP00000359801:E2005K	E	-	1	0	DST	56590778	1.000000	0.71417	0.956000	0.39512	0.918000	0.54935	3.945000	0.56637	2.578000	0.87016	0.557000	0.71058	GAA	DST	-	NULL	ENSG00000151914		0.408	DST-010	KNOWN	basic|CCDS	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041027.2	187	0.00	0	C	NM_001723		56482819	56482819	-1	no_errors	ENST00000370765	ensembl	human	known	69_37n	missense	118	45.62	99	SNP	0.992	T
DYNLT3	6990	genome.wustl.edu	37	X	37700304	37700304	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chrX:37700304C>G	ENST00000378578.4	-	4	377	c.251G>C	c.(250-252)tGt>tCt	p.C84S	DYNLT3_ENST00000432389.2_Missense_Mutation_p.C90S|TM4SF2_ENST00000465127.1_Intron|DYNLT3_ENST00000378581.3_Missense_Mutation_p.C84S	NM_006520.2	NP_006511.1	P51808	DYLT3_HUMAN	dynein, light chain, Tctex-type 3	84					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346)|transport (GO:0006810)	cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	motor activity (GO:0003774)			endometrium(1)|lung(1)|skin(1)	3						ATCCCAAAAACAGGAGCTGGC	0.408																																						dbGAP											0													90.0	82.0	84.0					X																	37700304		2201	4300	6501	-	-	-	SO:0001583	missense	0			U02556	CCDS14243.1	Xp21	2013-01-18	2005-11-25	2005-11-25	ENSG00000165169	ENSG00000165169		"""Cytoplasmic dyneins"""	11694	protein-coding gene	gene with protein product		300302	"""t-complex-associated-testis-expressed 1-like"""	TCTE1L		8004092	Standard	NM_006520		Approved	TCTEX1L	uc004dds.3	P51808	OTTHUMG00000033172	ENST00000378578.4:c.251G>C	X.37:g.37700304C>G	ENSP00000367841:p.Cys84Ser		Q6ICS3	Missense_Mutation	SNP	pfam_Tctex	p.C84S	ENST00000378578.4	37	c.251	CCDS14243.1	X	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545696	0.65198	.	.	ENSG00000165169	ENST00000378581;ENST00000378578;ENST00000432389	T;T;T	0.33438	1.41;1.41;1.41	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.35595	0.0937	M	0.69248	2.105	0.58432	D	0.999999	P	0.47841	0.901	B	0.41374	0.355	T	0.26087	-1.0113	10	0.51188	T	0.08	-14.8666	15.5504	0.76148	0.0:1.0:0.0:0.0	.	84	P51808	DYLT3_HUMAN	S	84;84;90	ENSP00000367844:C84S;ENSP00000367841:C84S;ENSP00000402695:C90S	ENSP00000367841:C84S	C	-	2	0	DYNLT3	37585248	1.000000	0.71417	0.603000	0.28903	0.589000	0.36550	6.789000	0.75110	2.469000	0.83416	0.594000	0.82650	TGT	DYNLT3	-	pfam_Tctex	ENSG00000165169		0.408	DYNLT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNLT3	HGNC	protein_coding	OTTHUMT00000080876.1	133	0.00	0	C	NM_006520		37700304	37700304	-1	no_errors	ENST00000378581	ensembl	human	known	69_37n	missense	54	30.77	24	SNP	0.995	G
ECHDC1	55862	genome.wustl.edu	37	6	127611347	127611347	+	Silent	SNP	G	G	T			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr6:127611347G>T	ENST00000531967.1	-	6	1094	c.591C>A	c.(589-591)acC>acA	p.T197T	ECHDC1_ENST00000528402.1_3'UTR|ECHDC1_ENST00000430841.2_Silent_p.T191T|ECHDC1_ENST00000488087.1_5'UTR|ECHDC1_ENST00000368291.2_3'UTR|ECHDC1_ENST00000309620.9_Silent_p.T174T|ECHDC1_ENST00000368289.2_3'UTR|ECHDC1_ENST00000454859.3_Silent_p.T191T|ECHDC1_ENST00000454591.2_Silent_p.T116T|ECHDC1_ENST00000474289.2_Silent_p.T191T	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	197						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxy-lyase activity (GO:0016831)|methylmalonyl-CoA decarboxylase activity (GO:0004492)			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		CAACTAGCCGGGTGGTGCCAC	0.418																																						dbGAP											0													80.0	75.0	77.0					6																	127611347		1860	4096	5956	-	-	-	SO:0001819	synonymous_variant	0			AK025796	CCDS34530.1, CCDS43504.1, CCDS47471.1, CCDS47472.1, CCDS55054.1	6q22.33	2011-12-12	2010-04-30		ENSG00000093144	ENSG00000093144			21489	protein-coding gene	gene with protein product		612136	"""enoyl Coenzyme A hydratase domain containing 1"""			22016388	Standard	NM_001002030		Approved	dJ351K20.2	uc003qax.3	Q9NTX5	OTTHUMG00000015523	ENST00000531967.1:c.591C>A	6.37:g.127611347G>T			A6NFJ5|B7Z8S0|E9PEN7|E9PR31|F8W851|Q5TEF6|Q5TEF7|Q5TEG0|Q5TEG4|Q9NZ30|V9HW18	Missense_Mutation	SNP	pfam_Crotonase_core	p.P205H	ENST00000531967.1	37	c.614	CCDS47471.1	6	.	.	.	.	.	.	.	.	.	.	G	6.454	0.451919	0.12283	.	.	ENSG00000093144	ENST00000436638;ENST00000460558	.	.	.	5.65	0.822	0.18806	.	.	.	.	.	T	0.12774	0.0310	.	.	.	0.29582	N	0.849054	.	.	.	.	.	.	T	0.26643	-1.0097	4	.	.	.	-3.2162	4.3822	0.11299	0.2631:0.0:0.4933:0.2436	.	.	.	.	H	205;70	.	.	P	-	2	0	ECHDC1	127653040	0.355000	0.24921	0.006000	0.13384	0.875000	0.50365	-0.304000	0.08199	-0.144000	0.11314	-0.137000	0.14449	CCC	ECHDC1	-	pfam_Crotonase_core	ENSG00000093144		0.418	ECHDC1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ECHDC1	HGNC	protein_coding	OTTHUMT00000042131.2	223	0.00	0	G			127611347	127611347	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000436638	ensembl	human	novel	69_37n	missense	47	62.40	78	SNP	0.288	T
EFCAB6	64800	genome.wustl.edu	37	22	43950819	43950819	+	Missense_Mutation	SNP	G	G	A	rs142570881	byFrequency	TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr22:43950819G>A	ENST00000262726.7	-	27	3831	c.3578C>T	c.(3577-3579)aCg>aTg	p.T1193M	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Missense_Mutation_p.T1041M	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1193	EF-hand 13. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GATGGTGTTCGTTTTCATGGT	0.527													G|||	4	0.000798722	0.0	0.0	5008	,	,		18030	0.004		0.0	False		,,,				2504	0.0					dbGAP											0													155.0	145.0	149.0					22																	43950819		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.3578C>T	22.37:g.43950819G>A	ENSP00000262726:p.Thr1193Met		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.T1193M	ENST00000262726.7	37	c.3578	CCDS14049.1	22	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	G	9.406	1.079212	0.20227	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.08720	3.06;3.06	4.88	1.27	0.21489	EF-hand-like domain (1);	0.311478	0.26190	N	0.025815	T	0.12390	0.0301	L	0.57536	1.79	0.09310	N	1	D;D	0.71674	0.997;0.998	P;P	0.61070	0.754;0.883	T	0.02081	-1.1217	10	0.49607	T	0.09	-7.4506	9.3192	0.37952	0.0:0.4345:0.4218:0.1437	.	1041;1193	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	M	1041;1193	ENSP00000379533:T1041M;ENSP00000262726:T1193M	ENSP00000262726:T1193M	T	-	2	0	EFCAB6	42282152	0.001000	0.12720	0.001000	0.08648	0.021000	0.10359	0.430000	0.21428	0.596000	0.29794	0.655000	0.94253	ACG	EFCAB6	-	smart_EF_hand_Ca-bd	ENSG00000186976		0.527	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB6	HGNC	protein_coding	OTTHUMT00000353176.1	87	0.00	0	G	NM_022785		43950819	43950819	-1	no_errors	ENST00000262726	ensembl	human	known	69_37n	missense	49	33.78	25	SNP	0.000	A
EFEMP1	2202	genome.wustl.edu	37	2	56145073	56145073	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr2:56145073C>T	ENST00000394555.2	-	4	679	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	EFEMP1_ENST00000394554.1_Missense_Mutation_p.E82K|EFEMP1_ENST00000424836.2_Missense_Mutation_p.E24K|EFEMP1_ENST00000355426.3_Missense_Mutation_p.E82K	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	82					epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)	p.E82*(1)		NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGAGGCTGTTCATTATTGACA	0.522																																					GBM(92;934 1319 7714 28760 40110)	dbGAP											1	Substitution - Nonsense(1)	pancreas(1)											123.0	123.0	123.0					2																	56145073		2203	4300	6503	-	-	-	SO:0001583	missense	0			U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"""Fibulins"""	3218	protein-coding gene	gene with protein product	"""fibulin 3"""	601548	"""fibrillin-like"", ""EGF-containing fibulin-like extracellular matrix protein 1"""	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.244G>A	2.37:g.56145073C>T	ENSP00000378058:p.Glu82Lys		A8K3I4|B4DW75|D6W5D2|Q541U7	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	p.E82K	ENST00000394555.2	37	c.244	CCDS1857.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.1|26.1	4.701320|4.701320	0.88924|0.88924	.|.	.|.	ENSG00000115380|ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000424836;ENST00000355426;ENST00000438672;ENST00000439193;ENST00000440439;ENST00000429909|ENST00000405693	D;D;T;D;T;T;T;T|.	0.84146|.	-1.81;-1.81;-1.44;-1.81;-1.21;-1.22;-1.1;-1.0|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.226092|.	0.30809|.	N|.	0.008829|.	T|T	0.61702|0.61702	0.2368|0.2368	L|L	0.44542|0.44542	1.39|1.39	0.32103|0.32103	N|N	0.590298|0.590298	B;P|.	0.47191|.	0.181;0.891|.	B;P|.	0.46419|.	0.036;0.516|.	T|T	0.66520|0.66520	-0.5903|-0.5903	10|6	0.13853|0.56958	T|D	0.58|0.05	.|.	19.8015|19.8015	0.96509|0.96509	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	24;82|.	B4DW75;Q12805|.	.;FBLN3_HUMAN|.	K|I	82;82;24;82;82;82;82;82|17	ENSP00000378058:E82K;ENSP00000378057:E82K;ENSP00000399145:E24K;ENSP00000347596:E82K;ENSP00000392055:E82K;ENSP00000408195:E82K;ENSP00000398345:E82K;ENSP00000389319:E82K|.	ENSP00000347596:E82K|ENSP00000384951:M17I	E|M	-|-	1|3	0|0	EFEMP1|EFEMP1	55998577|55998577	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	6.635000|6.635000	0.74295|0.74295	2.683000|2.683000	0.91414|0.91414	0.650000|0.650000	0.86243|0.86243	GAA|ATG	EFEMP1	-	NULL	ENSG00000115380		0.522	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFEMP1	HGNC	protein_coding	OTTHUMT00000251491.2	110	0.00	0	C			56145073	56145073	-1	no_errors	ENST00000355426	ensembl	human	known	69_37n	missense	91	30.53	40	SNP	1.000	T
EIF2AK3	9451	genome.wustl.edu	37	2	88858435	88858435	+	Splice_Site	SNP	C	C	A			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr2:88858435C>A	ENST00000303236.3	-	16	3451	c.3150G>T	c.(3148-3150)gaG>gaT	p.E1050D	AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000419748.1_Splice_Site_p.E899D	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	1050	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						TTACACATACCTCACAAGGAT	0.313																																					GBM(138;671 1851 16235 39058 45249)	dbGAP											0													51.0	54.0	53.0					2																	88858435		2202	4300	6502	-	-	-	SO:0001630	splice_region_variant	0			AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.3150+1G>T	2.37:g.88858435C>A			A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E1050D	ENST00000303236.3	37	c.3150	CCDS33241.1	2	.	.	.	.	.	.	.	.	.	.	C	18.28	3.588179	0.66105	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.65178	-0.14;-0.14;-0.14	5.0	3.91	0.45181	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.062767	0.64402	D	0.000005	T	0.72486	0.3466	L	0.60455	1.87	0.43095	D	0.994776	D	0.61697	0.99	D	0.74348	0.983	T	0.72257	-0.4346	9	.	.	.	-24.5914	11.5659	0.50805	0.0:0.8991:0.0:0.1009	.	1050	Q9NZJ5	E2AK3_HUMAN	D	899;1050;899;929	ENSP00000408325:E899D;ENSP00000307235:E1050D;ENSP00000412076:E929D	.	E	-	3	2	EIF2AK3	88639550	1.000000	0.71417	0.999000	0.59377	0.715000	0.41141	2.924000	0.48876	2.328000	0.79073	0.462000	0.41574	GAG	EIF2AK3	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000172071		0.313	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	EIF2AK3	HGNC	protein_coding	OTTHUMT00000338233.2	63	0.00	0	C	NM_004836	Missense_Mutation	88858435	88858435	-1	no_errors	ENST00000303236	ensembl	human	known	69_37n	missense	28	41.67	20	SNP	1.000	A
EIF2B3	8891	genome.wustl.edu	37	1	45323458	45323458	+	Silent	SNP	G	G	A			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr1:45323458G>A	ENST00000360403.2	-	11	1350	c.1224C>T	c.(1222-1224)gtC>gtT	p.V408V		NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	408					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					TGTTGCAGATGACACTGCCTT	0.483																																					Colon(26;357 658 2581 11857 12657)	dbGAP											0													229.0	183.0	199.0					1																	45323458		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785			3259	protein-coding gene	gene with protein product		606273	"""eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)"""			10900014	Standard	NM_020365		Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585	ENST00000360403.2:c.1224C>T	1.37:g.45323458G>A			B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	Silent	SNP	pfam_NTP_transferase	p.V408	ENST00000360403.2	37	c.1224	CCDS517.1	1																																																																																			EIF2B3	-	NULL	ENSG00000070785		0.483	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B3	HGNC	protein_coding	OTTHUMT00000023724.1	194	0.00	0	G	NM_020365		45323458	45323458	-1	no_errors	ENST00000360403	ensembl	human	known	69_37n	silent	103	35.62	57	SNP	1.000	A
EPHA7	2045	genome.wustl.edu	37	6	93956553	93956553	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr6:93956553G>C	ENST00000369303.4	-	15	2867	c.2683C>G	c.(2683-2685)Cga>Gga	p.R895G		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	895					brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.R895*(2)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTTGGGTTTCGAATCATTTTG	0.413																																						dbGAP											2	Substitution - Nonsense(2)	large_intestine(2)											135.0	129.0	131.0					6																	93956553		2203	4300	6503	-	-	-	SO:0001583	missense	0			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2683C>G	6.37:g.93956553G>C	ENSP00000358309:p.Arg895Gly		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.R895G	ENST00000369303.4	37	c.2683	CCDS5031.1	6	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858702	0.51376	.	.	ENSG00000135333	ENST00000369303	T	0.62105	0.05	5.74	2.52	0.30459	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.49712	0.1573	M	0.62088	1.915	0.80722	D	1	P;D;P	0.54772	0.95;0.968;0.947	B;B;B	0.42593	0.329;0.392;0.219	T	0.61931	-0.6961	10	0.87932	D	0	.	16.5944	0.84792	0.0:0.0:0.609:0.391	.	891;890;895	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	G	895	ENSP00000358309:R895G	ENSP00000358309:R895G	R	-	1	2	EPHA7	94013274	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.145000	0.50623	0.700000	0.31782	0.591000	0.81541	CGA	EPHA7	-	pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Kinase-like_dom	ENSG00000135333		0.413	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA7	HGNC	protein_coding	OTTHUMT00000041545.1	263	0.38	1	G			93956553	93956553	-1	no_errors	ENST00000369303	ensembl	human	known	69_37n	missense	94	28.79	38	SNP	1.000	C
FARP1	10160	genome.wustl.edu	37	13	99083458	99083458	+	Silent	SNP	C	C	T			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr13:99083458C>T	ENST00000319562.6	+	18	2332	c.2067C>T	c.(2065-2067)ctC>ctT	p.L689L	FARP1_ENST00000595437.1_Silent_p.L689L|FARP1_ENST00000376586.2_Silent_p.L689L	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	689	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGCACCGGCTCATGCACTACA	0.632																																						dbGAP											0													25.0	24.0	24.0					13																	99083458		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2067C>T	13.37:g.99083458C>T			Q5JVI9|Q6IQ29	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.L689	ENST00000319562.6	37	c.2067	CCDS9487.1	13																																																																																			FARP1	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000152767		0.632	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP1	HGNC	protein_coding	OTTHUMT00000045541.3	17	0.00	0	C	NM_005766		99083458	99083458	+1	no_errors	ENST00000376586	ensembl	human	known	69_37n	silent	8	71.43	20	SNP	0.998	T
FBXL4	26235	genome.wustl.edu	37	6	99322245	99322245	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr6:99322245A>G	ENST00000369244.2	-	10	2203	c.1775T>C	c.(1774-1776)gTg>gCg	p.V592A	FBXL4_ENST00000229971.1_Missense_Mutation_p.V592A	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	592					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		ACAGAAGGACACATCAAGTAA	0.353																																						dbGAP											0													123.0	127.0	126.0					6																	99322245		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"""F-boxes / Leucine-rich repeats"""	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.1775T>C	6.37:g.99322245A>G	ENSP00000358247:p.Val592Ala		B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.V592A	ENST00000369244.2	37	c.1775	CCDS5041.1	6	.	.	.	.	.	.	.	.	.	.	A	28.6	4.934793	0.92458	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.19938	2.11;2.11	5.95	5.95	0.96441	.	0.057357	0.64402	D	0.000001	T	0.13756	0.0333	L	0.50333	1.59	0.80722	D	1	P	0.41313	0.745	B	0.37480	0.251	T	0.01810	-1.1269	10	0.87932	D	0	.	16.4237	0.83790	1.0:0.0:0.0:0.0	.	592	Q9UKA2	FBXL4_HUMAN	A	592	ENSP00000358247:V592A;ENSP00000229971:V592A	ENSP00000229971:V592A	V	-	2	0	FBXL4	99428966	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.279000	0.76181	0.533000	0.62120	GTG	FBXL4	-	smart_Leu-rich_rpt_Cys-con_subtyp	ENSG00000112234		0.353	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL4	HGNC	protein_coding	OTTHUMT00000041587.2	291	0.00	0	A			99322245	99322245	-1	no_errors	ENST00000229971	ensembl	human	known	69_37n	missense	124	38.92	79	SNP	1.000	G
FBXL7	23194	genome.wustl.edu	37	5	15936870	15936870	+	Missense_Mutation	SNP	C	C	T	rs532860622		TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr5:15936870C>T	ENST00000504595.1	+	4	1532	c.1051C>T	c.(1051-1053)Cgc>Tgc	p.R351C	FBXL7_ENST00000510662.1_Missense_Mutation_p.R304C|MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000329673.7_Missense_Mutation_p.R339C	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	351					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCTGGAGTCCCGCCTGCGGTA	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		17072	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													25.0	28.0	27.0					5																	15936870		2177	4272	6449	-	-	-	SO:0001583	missense	0			AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.1051C>T	5.37:g.15936870C>T	ENSP00000423630:p.Arg351Cys		B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.R351C	ENST00000504595.1	37	c.1051	CCDS54833.1	5	.	.	.	.	.	.	.	.	.	.	C	11.60	1.688356	0.29962	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.02472	4.28;4.28;4.28	5.37	5.37	0.77165	.	0.095320	0.85682	D	0.000000	T	0.04679	0.0127	L	0.41961	1.31	0.58432	D	0.999997	B	0.23490	0.086	B	0.11329	0.006	T	0.42832	-0.9428	10	0.54805	T	0.06	.	19.109	0.93309	0.0:1.0:0.0:0.0	.	351	Q9UJT9	FBXL7_HUMAN	C	351;304;339	ENSP00000423630:R351C;ENSP00000425184:R304C;ENSP00000329632:R339C	ENSP00000329632:R339C	R	+	1	0	FBXL7	15989870	1.000000	0.71417	0.998000	0.56505	0.366000	0.29705	4.590000	0.61013	2.525000	0.85131	0.655000	0.94253	CGC	FBXL7	-	smart_Leu-rich_rpt_Cys-con_subtyp	ENSG00000183580		0.652	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL7	HGNC	protein_coding	OTTHUMT00000366117.1	31	0.00	0	C	NM_012304		15936870	15936870	+1	no_errors	ENST00000504595	ensembl	human	known	69_37n	missense	35	29.41	15	SNP	1.000	T
FDPS	2224	genome.wustl.edu	37	1	155290280	155290280	+	Silent	SNP	C	C	T			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr1:155290280C>T	ENST00000356657.6	+	11	1302	c.1140C>T	c.(1138-1140)ttC>ttT	p.F380F	FDPS_ENST00000368356.4_Silent_p.F380F|FDPS_ENST00000447866.1_Silent_p.F314F|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368352.5_5'Flank|RUSC1_ENST00000368354.3_5'Flank|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000446880.1_RNA	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	380					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CAGCAGTGTTCTTGCAATATG	0.532																																						dbGAP											0													56.0	51.0	53.0					1																	155290280		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"""farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"""	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.1140C>T	1.37:g.155290280C>T			D3DV91|E9PCI9|Q96G29	Silent	SNP	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.F380	ENST00000356657.6	37	c.1140	CCDS1110.1	1																																																																																			FDPS	-	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	ENSG00000160752		0.532	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FDPS	HGNC	protein_coding	OTTHUMT00000039053.1	97	0.00	0	C	NM_002004		155290280	155290280	+1	no_errors	ENST00000356657	ensembl	human	known	69_37n	silent	155	19.69	38	SNP	0.642	T
GPR112	139378	genome.wustl.edu	37	X	135429691	135429691	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chrX:135429691G>A	ENST00000394143.1	+	6	4117	c.3826G>A	c.(3826-3828)Gaa>Aaa	p.E1276K	GPR112_ENST00000287534.4_Missense_Mutation_p.E1213K|GPR112_ENST00000394141.1_Missense_Mutation_p.E1071K|GPR112_ENST00000370652.1_Missense_Mutation_p.E1276K|GPR112_ENST00000412101.1_Missense_Mutation_p.E1071K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1276					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E1276Q(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGAGGTGACAGAAATGTCCCC	0.438																																						dbGAP											1	Substitution - Missense(1)	urinary_tract(1)											71.0	63.0	66.0					X																	135429691		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3826G>A	X.37:g.135429691G>A	ENSP00000377699:p.Glu1276Lys		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.E1276K	ENST00000394143.1	37	c.3826	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	g	10.21	1.288708	0.23478	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.40756	1.06;1.06;1.02;1.12;1.02	3.05	0.939	0.19506	.	.	.	.	.	T	0.45955	0.1368	L	0.32530	0.975	0.09310	N	1	D;D;D	0.67145	0.996;0.996;0.993	D;D;D	0.75484	0.981;0.986;0.968	T	0.24225	-1.0166	9	0.87932	D	0	.	3.3723	0.07225	0.1681:0.2697:0.5622:0.0	.	1213;1071;1276	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	K	1276;1276;1071;1213;1071	ENSP00000377699:E1276K;ENSP00000359686:E1276K;ENSP00000416526:E1071K;ENSP00000287534:E1213K;ENSP00000377697:E1071K	ENSP00000287534:E1213K	E	+	1	0	GPR112	135257357	0.972000	0.33761	0.039000	0.18376	0.047000	0.14425	0.345000	0.19979	0.454000	0.26884	0.525000	0.51046	GAA	GPR112	-	NULL	ENSG00000156920		0.438	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	886	0.00	0	G			135429691	135429691	+1	no_errors	ENST00000370652	ensembl	human	known	69_37n	missense	223	59.53	331	SNP	0.024	A
C5AR2	27202	genome.wustl.edu	37	19	47844232	47844232	+	Frame_Shift_Del	DEL	T	T	-	rs201387134		TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr19:47844232delT	ENST00000595464.1	+	2	394	c.176delT	c.(175-177)gtgfs	p.V59fs	C5AR2_ENST00000257267.2_Frame_Shift_Del_p.V59fs|C5AR2_ENST00000600626.1_Frame_Shift_Del_p.V59fs	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	59					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of interleukin-8 secretion (GO:2000482)	apical part of cell (GO:0045177)|basal plasma membrane (GO:0009925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)										GTGGCCTGGGTGGCTGGGAAG	0.697																																						dbGAP											0													63.0	66.0	65.0					19																	47844232		2201	4298	6499	-	-	-	SO:0001589	frameshift_variant	0			AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830		"""GPCR / Class A : Complement component receptors"""	4527	protein-coding gene	gene with protein product		609949	"""G protein-coupled receptor 77"""	GPR77		11165367	Standard	NM_018485		Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.176delT	19.37:g.47844232delT	ENSP00000472620:p.Val59fs		B2RA09	Frame_Shift_Del	DEL	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_C5A_anaphtx_rcpt	p.V59fs	ENST00000595464.1	37	c.176	CCDS12699.1	19																																																																																			GPR77	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_C5A_anaphtx_rcpt	ENSG00000134830		0.697	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR77	HGNC	protein_coding	OTTHUMT00000466926.1	28	0.00	0	T	NM_018485		47844232	47844232	+1	no_errors	ENST00000257267	ensembl	human	known	69_37n	frame_shift_del	32	36.54	19	DEL	0.998	-
HAUS8	93323	genome.wustl.edu	37	19	17169632	17169632	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr19:17169632G>C	ENST00000253669.5	-	7	665	c.475C>G	c.(475-477)Cta>Gta	p.L159V	HAUS8_ENST00000593360.1_Missense_Mutation_p.L98V|HAUS8_ENST00000448593.2_Missense_Mutation_p.L158V			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	159					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						TTTACGGATAGTAGCGTCAGC	0.453																																						dbGAP											0													105.0	88.0	94.0					19																	17169632		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC004398	CCDS32948.1, CCDS46009.1	19p13.11	2013-10-11	2009-04-20	2009-04-20	ENSG00000131351	ENSG00000131351		"""HAUS augmin-like complex subunits"""	30532	protein-coding gene	gene with protein product		613434	"""HEC1/NDC80 interacting, centrosome associated 1"""	HICE1		19427217	Standard	XM_005260154		Approved	MGC20533, NY-SAR-48	uc002nfe.3	Q9BT25		ENST00000253669.5:c.475C>G	19.37:g.17169632G>C	ENSP00000253669:p.Leu159Val		B4DJA7|C9JBZ4|Q49AC4|Q86WF0|Q96FX3	Missense_Mutation	SNP	NULL	p.L159V	ENST00000253669.5	37	c.475	CCDS32948.1	19	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497411	0.44455	.	.	ENSG00000131351	ENST00000253669;ENST00000448593	T;T	0.79247	-1.25;-1.25	4.88	4.88	0.63580	.	0.100092	0.41396	D	0.000881	D	0.85716	0.5761	M	0.66939	2.045	0.21675	N	0.999592	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.996;0.994;0.994	T	0.77923	-0.2406	10	0.44086	T	0.13	-20.1869	13.537	0.61652	0.0:0.0:1.0:0.0	.	98;158;159	Q9BT25-2;C9JBZ4;Q9BT25	.;.;HAUS8_HUMAN	V	159;158	ENSP00000253669:L159V;ENSP00000395298:L158V	ENSP00000253669:L159V	L	-	1	2	HAUS8	17030632	0.514000	0.26202	0.041000	0.18516	0.002000	0.02628	1.984000	0.40658	2.256000	0.74724	0.561000	0.74099	CTA	HAUS8	-	NULL	ENSG00000131351		0.453	HAUS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HAUS8	HGNC	protein_coding	OTTHUMT00000463015.1	116	0.00	0	G	NM_001011699		17169632	17169632	-1	no_errors	ENST00000253669	ensembl	human	known	69_37n	missense	113	46.54	101	SNP	0.180	C
TM6SF2	53345	genome.wustl.edu	37	19	19381108	19381108	+	Intron	SNP	C	C	T			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr19:19381108C>T	ENST00000389363.4	-	4	370				TM6SF2_ENST00000586107.1_Intron|AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2							integral component of membrane (GO:0016021)				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			GTGGGAGACTCAGACGGGCAG	0.602																																						dbGAP											0													44.0	50.0	48.0					19																	19381108		2027	4178	6205	-	-	-	SO:0001627	intron_variant	0			AF255923	CCDS42528.1	19p13.3-p12	2008-02-05							11861	protein-coding gene	gene with protein product		606563				11124529	Standard	NM_001001524		Approved	Lpr4	uc002nmd.1	Q9BZW4		ENST00000389363.4:c.298-23G>A	19.37:g.19381108C>T			Q0IJ64	Missense_Mutation	SNP	NULL	p.E115K	ENST00000389363.4	37	c.343	CCDS42528.1	19	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441620	0.63067	.	.	ENSG00000213996	ENST00000431465	.	.	.	5.02	2.64	0.31445	.	.	.	.	.	T	0.58680	0.2139	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55835	-0.8078	4	.	.	.	.	10.1474	0.42771	0.2916:0.7083:0.0:0.0	.	.	.	.	K	115	.	.	E	-	1	0	TM6SF2	19242108	0.001000	0.12720	0.926000	0.36857	0.024000	0.10985	0.253000	0.18296	2.339000	0.79563	0.492000	0.49549	GAG	AC138430.4	-	NULL	ENSG00000267629		0.602	TM6SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAPLN4	Clone_based_vega_gene	protein_coding	OTTHUMT00000460122.2	29	0.00	0	C	NM_203510		19381108	19381108	-1	no_errors	ENST00000586064	ensembl	human	known	69_37n	missense	20	31.03	9	SNP	0.893	T
HDAC1	3065	genome.wustl.edu	37	1	32797323	32797323	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr1:32797323G>T	ENST00000373548.3	+	11	1219	c.1135G>T	c.(1135-1137)Gtc>Ttc	p.V379F	HDAC1_ENST00000490081.1_3'UTR|HDAC1_ENST00000373541.2_Missense_Mutation_p.V186F	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	379					ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|mitotic cell cycle (GO:0000278)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deacetylation (GO:0006476)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	CGCACCTGGGGTCCAAATGCA	0.572																																						dbGAP											0													97.0	93.0	94.0					1																	32797323		2203	4300	6503	-	-	-	SO:0001583	missense	0			D50405	CCDS360.1	1p34	2008-02-05			ENSG00000116478	ENSG00000116478			4852	protein-coding gene	gene with protein product		601241		RPD3L1		8602529	Standard	NM_004964		Approved	HD1, GON-10	uc001bvb.1	Q13547	OTTHUMG00000007529	ENST00000373548.3:c.1135G>T	1.37:g.32797323G>T	ENSP00000362649:p.Val379Phe		Q92534	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse	p.V379F	ENST00000373548.3	37	c.1135	CCDS360.1	1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.085981	0.76642	.	.	ENSG00000116478	ENST00000373548;ENST00000373541	T;T	0.81163	-1.46;-1.38	4.28	4.28	0.50868	Histone deacetylase domain (1);	0.000000	0.85682	D	0.000000	D	0.93910	0.8051	H	0.98507	4.25	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.96567	0.9420	10	0.87932	D	0	-22.866	17.6011	0.88025	0.0:0.0:1.0:0.0	.	379	Q13547	HDAC1_HUMAN	F	379;186	ENSP00000362649:V379F;ENSP00000362642:V186F	ENSP00000362642:V186F	V	+	1	0	HDAC1	32569910	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	7.940000	0.87693	2.330000	0.79161	0.563000	0.77884	GTC	HDAC1	-	pirsf_His_deacetylse_1	ENSG00000116478		0.572	HDAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC1	HGNC	protein_coding	OTTHUMT00000019815.3	148	0.00	0	G	NM_004964		32797323	32797323	+1	no_errors	ENST00000373548	ensembl	human	known	69_37n	missense	43	31.75	20	SNP	1.000	T
HEATR3	55027	genome.wustl.edu	37	16	50112756	50112756	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr16:50112756G>T	ENST00000299192.7	+	7	1059	c.868G>T	c.(868-870)Gaa>Taa	p.E290*	HEATR3_ENST00000285767.4_Nonsense_Mutation_p.E204*	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	290								p.E290K(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GGATGCTGGTGAAATGGTTAT	0.363																																						dbGAP											1	Substitution - Missense(1)	urinary_tract(1)											84.0	84.0	84.0					16																	50112756		2198	4300	6498	-	-	-	SO:0001587	stop_gained	0			BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.868G>T	16.37:g.50112756G>T	ENSP00000299192:p.Glu290*		A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.E290*	ENST00000299192.7	37	c.868	CCDS10739.1	16	.	.	.	.	.	.	.	.	.	.	G	38	6.788625	0.97841	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	.	.	.	5.61	2.56	0.30785	.	0.496457	0.23916	N	0.043287	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	6.7092	0.23268	0.1926:0.2301:0.5773:0.0	.	.	.	.	X	204;290	.	ENSP00000285767:E204X	E	+	1	0	HEATR3	48670257	0.023000	0.18921	0.001000	0.08648	0.981000	0.71138	0.587000	0.23909	0.399000	0.25367	0.544000	0.68410	GAA	HEATR3	-	superfamily_ARM-type_fold	ENSG00000155393		0.363	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR3	HGNC	protein_coding	OTTHUMT00000256880.2	103	0.00	0	G	NM_182922		50112756	50112756	+1	no_errors	ENST00000299192	ensembl	human	known	69_37n	nonsense	51	42.70	38	SNP	0.007	T
IPMK	253430	genome.wustl.edu	37	10	59956131	59956131	+	Silent	SNP	C	C	T			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr10:59956131C>T	ENST00000373935.3	-	6	1279	c.957G>A	c.(955-957)gcG>gcA	p.A319A		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	319					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|neural tube formation (GO:0001841)|small molecule metabolic process (GO:0044281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol tetrakisphosphate 3-kinase activity (GO:0000824)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)|inositol-1,4,5-trisphosphate 6-kinase activity (GO:0000823)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						TCCTGTGACGCGCATACATCT	0.383																																						dbGAP											0													143.0	146.0	145.0					10																	59956131		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF432853	CCDS7250.1	10q21.1	2010-11-29		2004-07-22	ENSG00000151151	ENSG00000151151			20739	protein-coding gene	gene with protein product		609851				12223481, 12027805	Standard	NM_152230		Approved		uc001jkb.3	Q8NFU5	OTTHUMG00000018268	ENST00000373935.3:c.957G>A	10.37:g.59956131C>T				Silent	SNP	pfam_IPK	p.A319	ENST00000373935.3	37	c.957	CCDS7250.1	10																																																																																			IPMK	-	pfam_IPK	ENSG00000151151		0.383	IPMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPMK	HGNC	protein_coding	OTTHUMT00000048142.1	328	0.00	0	C	NM_152230		59956131	59956131	-1	no_errors	ENST00000373935	ensembl	human	known	69_37n	silent	250	17.22	52	SNP	0.003	T
ITGA11	22801	genome.wustl.edu	37	15	68695306	68695306	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr15:68695306C>T	ENST00000315757.7	-	2	201	c.115G>A	c.(115-117)Gcc>Acc	p.A39T	ITGA11_ENST00000423218.2_Missense_Mutation_p.A39T	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	39					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						CCAAAGAAGGCGGTCCTGGAG	0.617																																						dbGAP											0													50.0	57.0	55.0					15																	68695306		2083	4214	6297	-	-	-	SO:0001583	missense	0			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.115G>A	15.37:g.68695306C>T	ENSP00000327290:p.Ala39Thr		J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.A39T	ENST00000315757.7	37	c.115	CCDS45291.1	15	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122693	0.37436	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000537153	T;T	0.71461	-0.57;-0.57	5.11	4.18	0.49190	.	0.061993	0.64402	D	0.000003	T	0.61286	0.2335	L	0.40543	1.245	0.38839	D	0.956012	P;P	0.50943	0.94;0.81	B;B	0.42916	0.402;0.121	T	0.60541	-0.7243	10	0.22109	T	0.4	.	12.9599	0.58451	0.1635:0.8365:0.0:0.0	.	39;39	A8K8T0;Q9UKX5	.;ITA11_HUMAN	T	39	ENSP00000327290:A39T;ENSP00000403392:A39T	ENSP00000327290:A39T	A	-	1	0	ITGA11	66482360	0.762000	0.28451	0.834000	0.33040	0.881000	0.50899	1.219000	0.32479	1.242000	0.43836	0.467000	0.42956	GCC	ITGA11	-	smart_Int_alpha_beta-p	ENSG00000137809		0.617	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGA11	HGNC	protein_coding		39	0.00	0	C	NM_012211		68695306	68695306	-1	no_errors	ENST00000315757	ensembl	human	known	69_37n	missense	7	72.00	18	SNP	0.961	T
KCNH5	27133	genome.wustl.edu	37	14	63416872	63416872	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr14:63416872C>A	ENST00000322893.7	-	7	1616	c.1348G>T	c.(1348-1350)Gtg>Ttg	p.V450L	KCNH5_ENST00000394968.1_Missense_Mutation_p.V392L|KCNH5_ENST00000420622.2_Missense_Mutation_p.V450L|KCNH5_ENST00000394964.2_Missense_Mutation_p.V392L	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	450					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ATCATAGCCACCGAAAACATC	0.373																																						dbGAP											0													89.0	86.0	87.0					14																	63416872		2203	4300	6503	-	-	-	SO:0001583	missense	0			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1348G>T	14.37:g.63416872C>A	ENSP00000321427:p.Val450Leu		C9JP98	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS	p.V450L	ENST00000322893.7	37	c.1348	CCDS9756.1	14	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046082	0.75846	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.98777	-5.13;-5.13;-5.13;-5.13	5.62	5.62	0.85841	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98670	0.9554	M	0.70903	2.155	0.80722	D	1	B;B;B;P	0.38535	0.107;0.439;0.439;0.635	B;B;B;P	0.49477	0.199;0.209;0.209;0.612	D	0.99877	1.1106	10	0.87932	D	0	.	19.6753	0.95930	0.0:1.0:0.0:0.0	.	392;392;450;450	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	L	450;450;392;392	ENSP00000321427:V450L;ENSP00000395439:V450L;ENSP00000378419:V392L;ENSP00000378415:V392L	ENSP00000321427:V450L	V	-	1	0	KCNH5	62486625	1.000000	0.71417	0.959000	0.39883	0.919000	0.55068	7.818000	0.86416	2.648000	0.89879	0.563000	0.77884	GTG	KCNH5	-	pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_EAG/ELK/ERG	ENSG00000140015		0.373	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH5	HGNC	protein_coding	OTTHUMT00000411747.1	373	0.00	0	C	NM_139318		63416872	63416872	-1	no_errors	ENST00000322893	ensembl	human	known	69_37n	missense	158	26.17	56	SNP	1.000	A
KIF5A	3798	genome.wustl.edu	37	12	57976912	57976912	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr12:57976912G>A	ENST00000455537.2	+	28	3323	c.3049G>A	c.(3049-3051)Gag>Aag	p.E1017K	KIF5A_ENST00000286452.5_Missense_Mutation_p.E928K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	1017	Globular.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CTATGAGGCTGAGGACCAGGC	0.537											OREG0021947	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													91.0	67.0	75.0					12																	57976912		2203	4300	6503	-	-	-	SO:0001583	missense	0			U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.3049G>A	12.37:g.57976912G>A	ENSP00000408979:p.Glu1017Lys	1027	A6H8M5|Q4LE26	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E1017K	ENST00000455537.2	37	c.3049	CCDS8945.1	12	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225087	0.79576	.	.	ENSG00000155980	ENST00000455537;ENST00000286452;ENST00000547989	T;T	0.74632	-0.86;-0.86	4.79	4.79	0.61399	.	0.059145	0.64402	D	0.000003	T	0.64382	0.2593	N	0.22421	0.69	0.53688	D	0.99997	B;B	0.19200	0.013;0.034	B;B	0.14578	0.006;0.011	T	0.62613	-0.6817	10	0.72032	D	0.01	.	17.8124	0.88620	0.0:0.0:1.0:0.0	.	928;1017	B7Z2M7;Q12840	.;KIF5A_HUMAN	K	1017;928;111	ENSP00000408979:E1017K;ENSP00000286452:E928K	ENSP00000286452:E928K	E	+	1	0	KIF5A	56263179	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.127000	0.77210	2.941000	0.99782	0.655000	0.94253	GAG	KIF5A	-	NULL	ENSG00000155980		0.537	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF5A	HGNC	protein_coding	OTTHUMT00000407634.1	59	0.00	0	G	NM_004984		57976912	57976912	+1	no_errors	ENST00000455537	ensembl	human	known	69_37n	missense	40	37.50	24	SNP	1.000	A
LGI3	203190	genome.wustl.edu	37	8	22006360	22006360	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr8:22006360G>C	ENST00000306317.2	-	8	1249	c.960C>G	c.(958-960)gaC>gaG	p.D320E	LGI3_ENST00000424267.2_Missense_Mutation_p.D296E	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	320					exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)			endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		GCGGGTCAATGTCTTGCAGCC	0.607																																						dbGAP											0													87.0	71.0	76.0					8																	22006360		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.960C>G	8.37:g.22006360G>C	ENSP00000302297:p.Asp320Glu		A5PLP2|Q86TL4|Q8N296	Missense_Mutation	SNP	pfam_EPTP,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.D320E	ENST00000306317.2	37	c.960	CCDS6025.1	8	.	.	.	.	.	.	.	.	.	.	g	13.87	2.366499	0.41902	.	.	ENSG00000168481	ENST00000306317;ENST00000424267	T;T	0.79845	-1.31;-1.31	4.52	0.421	0.16451	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.84826	0.5558	L	0.61218	1.895	0.41388	D	0.987596	D;D	0.76494	0.999;0.992	D;D	0.81914	0.995;0.987	T	0.80542	-0.1336	10	0.32370	T	0.25	-31.4301	10.4113	0.44294	0.3494:0.0:0.6506:0.0	.	296;320	A5PLP2;Q8N145	.;LGI3_HUMAN	E	320;296	ENSP00000302297:D320E;ENSP00000399121:D296E	ENSP00000302297:D320E	D	-	3	2	LGI3	22062305	0.998000	0.40836	0.925000	0.36789	0.406000	0.30931	0.355000	0.20163	-0.089000	0.12484	-1.134000	0.01955	GAC	LGI3	-	pfam_EPTP,pfscan_EAR	ENSG00000168481		0.607	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI3	HGNC	protein_coding	OTTHUMT00000254482.1	33	0.00	0	G			22006360	22006360	-1	no_errors	ENST00000306317	ensembl	human	known	69_37n	missense	21	34.38	11	SNP	1.000	C
MBD6	114785	genome.wustl.edu	37	12	57921001	57921002	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr12:57921001_57921002insC	ENST00000355673.3	+	7	2429_2430	c.2073_2074insC	c.(2074-2076)cccfs	p.P692fs	MBD6_ENST00000431731.2_Frame_Shift_Ins_p.P692fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	692	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.Q694fs*23(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCTCGGGGACACCCCCCCAGGT	0.559																																						dbGAP											2	Insertion - Frameshift(2)	large_intestine(2)																																								-	-	-	SO:0001589	frameshift_variant	0			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.2080dupC	12.37:g.57921008_57921008dupC	ENSP00000347896:p.Pro692fs		Q8N3M0|Q8NA81|Q96Q00	Frame_Shift_Ins	INS	superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.Q693fs	ENST00000355673.3	37	c.2073_2074	CCDS8944.1	12																																																																																			MBD6	-	NULL	ENSG00000166987		0.559	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD6	HGNC	protein_coding	OTTHUMT00000407250.1	23	0.00	0	-			57921001	57921002	+1	no_errors	ENST00000355673	ensembl	human	known	69_37n	frame_shift_ins	10	16.67	2	INS	0.564:0.764	C
MGAT4C	25834	genome.wustl.edu	37	12	86373693	86373693	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr12:86373693G>A	ENST00000604798.1	-	8	2015	c.811C>T	c.(811-813)Cgt>Tgt	p.R271C	MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R271C|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R271C|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R271C|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R300C|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R271C			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	271					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.R271C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGGGCCAAACGTGGGAGATCA	0.388																																						dbGAP											1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											66.0	64.0	65.0					12																	86373693		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.811C>T	12.37:g.86373693G>A	ENSP00000474896:p.Arg271Cys		B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	pfam_Glyco_transf_54,superfamily_LSM_dom	p.R300C	ENST00000604798.1	37	c.898	CCDS9030.1	12	.	.	.	.	.	.	.	.	.	.	G	10.37	1.330130	0.24167	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	5.75	3.85	0.44370	.	0.000000	0.85682	D	0.000000	T	0.59662	0.2210	L	0.50919	1.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70716	0.97;0.97	T	0.58312	-0.7658	10	0.37606	T	0.19	-13.4198	13.1274	0.59363	0.0:0.1227:0.7494:0.1278	.	300;271	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	C	271;300;271;271;271;271;271	ENSP00000331664:R271C;ENSP00000376900:R300C;ENSP00000449022:R271C;ENSP00000446647:R271C;ENSP00000447253:R271C;ENSP00000449172:R271C	ENSP00000331664:R271C	R	-	1	0	MGAT4C	84897824	1.000000	0.71417	1.000000	0.80357	0.005000	0.04900	6.441000	0.73439	1.425000	0.47237	-0.171000	0.13296	CGT	MGAT4C	-	pfam_Glyco_transf_54	ENSG00000182050		0.388	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MGAT4C	HGNC	protein_coding	OTTHUMT00000406212.2	101	0.00	0	G	NM_013244		86373693	86373693	-1	no_errors	ENST00000393205	ensembl	human	known	69_37n	missense	79	34.96	43	SNP	1.000	A
MICALCL	84953	genome.wustl.edu	37	11	12315451	12315451	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr11:12315451G>T	ENST00000256186.2	+	3	764	c.473G>T	c.(472-474)aGt>aTt	p.S158I		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	158					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		GAAAAAGGGAGTACTGGAGCC	0.562																																						dbGAP											0													63.0	72.0	69.0					11																	12315451		1968	4137	6105	-	-	-	SO:0001583	missense	0			BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.473G>T	11.37:g.12315451G>T	ENSP00000256186:p.Ser158Ile		Q7RTP7|Q96JU6	Missense_Mutation	SNP	pfam_DUF3585,smart_Fertility_inhib_FinO/ProQ	p.S158I	ENST00000256186.2	37	c.473	CCDS41620.1	11	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851516	0.32699	.	.	ENSG00000133808	ENST00000256186	T	0.10099	2.91	4.81	-3.54	0.04653	.	1.788600	0.02814	N	0.124756	T	0.07908	0.0198	L	0.27053	0.805	0.09310	N	1	P	0.40476	0.718	B	0.39185	0.293	T	0.28713	-1.0035	10	0.45353	T	0.12	.	4.9219	0.13874	0.362:0.2685:0.3695:0.0	.	158	Q6ZW33	MICLK_HUMAN	I	158	ENSP00000256186:S158I	ENSP00000256186:S158I	S	+	2	0	MICALCL	12272027	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.628000	0.05515	-0.317000	0.08677	0.655000	0.94253	AGT	MICALCL	-	NULL	ENSG00000133808		0.562	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALCL	HGNC	protein_coding	OTTHUMT00000386164.1	199	0.00	0	G	NM_032867		12315451	12315451	+1	no_errors	ENST00000256186	ensembl	human	known	69_37n	missense	214	18.94	50	SNP	0.000	T
MPHOSPH8	54737	genome.wustl.edu	37	13	20220931	20220931	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr13:20220931A>T	ENST00000361479.5	+	3	786	c.718A>T	c.(718-720)Acg>Tcg	p.T240S	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.T240S	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	240	Lys-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		agatttaaagacgaaaacaag	0.303																																						dbGAP											0													21.0	24.0	23.0					13																	20220931		2124	4249	6373	-	-	-	SO:0001583	missense	0			AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.718A>T	13.37:g.20220931A>T	ENSP00000355388:p.Thr240Ser		B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow	p.T240S	ENST00000361479.5	37	c.718	CCDS9287.1	13	.	.	.	.	.	.	.	.	.	.	A	6.162	0.398025	0.11696	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.34072	1.39;1.38	6.02	0.442	0.16582	.	1.315350	0.04541	N	0.388167	T	0.26376	0.0644	L	0.47716	1.5	0.09310	N	1	B;B;P	0.40731	0.146;0.228;0.728	B;B;B	0.30855	0.057;0.121;0.095	T	0.17319	-1.0373	10	0.08381	T	0.77	.	10.6634	0.45714	0.6575:0.0:0.3425:0.0	.	240;240;240	Q99549;Q99549-2;B3KS10	MPP8_HUMAN;.;.	S	240	ENSP00000414663:T240S;ENSP00000355388:T240S	ENSP00000355388:T240S	T	+	1	0	MPHOSPH8	19118931	0.004000	0.15560	0.995000	0.50966	0.952000	0.60782	0.031000	0.13710	0.162000	0.19483	0.528000	0.53228	ACG	MPHOSPH8	-	NULL	ENSG00000196199		0.303	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPHOSPH8	HGNC	protein_coding	OTTHUMT00000044028.2	172	0.00	0	A	NM_017520		20220931	20220931	+1	no_errors	ENST00000414242	ensembl	human	known	69_37n	missense	68	52.78	76	SNP	0.580	T
MTMR2	8898	genome.wustl.edu	37	11	95583906	95583906	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr11:95583906G>A	ENST00000346299.5	-	8	1002	c.662C>T	c.(661-663)cCa>cTa	p.P221L	MTMR2_ENST00000393223.3_Missense_Mutation_p.P149L|MTMR2_ENST00000352297.7_Missense_Mutation_p.P149L|MTMR2_ENST00000409459.1_Missense_Mutation_p.P149L|MTMR2_ENST00000484818.1_5'UTR	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	221	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCTTTCATTTGGAATTCCCTA	0.368																																						dbGAP											0													167.0	161.0	163.0					11																	95583906		2201	4298	6499	-	-	-	SO:0001583	missense	0			U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.662C>T	11.37:g.95583906G>A	ENSP00000345752:p.Pro221Leu		A6NN98|Q9UPS9	Missense_Mutation	SNP	pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	p.P221L	ENST00000346299.5	37	c.662	CCDS8305.1	11	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452817	0.84209	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541;ENST00000546018	D;D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68;-2.68	5.43	5.43	0.79202	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.95538	0.8550	M	0.83384	2.64	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.66716	0.946;0.915	D	0.95251	0.8360	10	0.54805	T	0.06	.	19.6098	0.95600	0.0:0.0:1.0:0.0	.	221;221	A8K5G2;Q13614	.;MTMR2_HUMAN	L	221;149;149;149;149;204	ENSP00000345752:P221L;ENSP00000376915:P149L;ENSP00000386882:P149L;ENSP00000343737:P149L;ENSP00000396020:P149L	ENSP00000345752:P221L	P	-	2	0	MTMR2	95223554	1.000000	0.71417	1.000000	0.80357	0.533000	0.34776	9.305000	0.96197	2.696000	0.92011	0.655000	0.94253	CCA	MTMR2	-	NULL	ENSG00000087053		0.368	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR2	HGNC	protein_coding	OTTHUMT00000332620.1	272	0.00	0	G	NM_016156		95583906	95583906	-1	no_errors	ENST00000346299	ensembl	human	known	69_37n	missense	127	27.68	49	SNP	1.000	A
MUC16	94025	genome.wustl.edu	37	19	9062300	9062300	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr19:9062300C>A	ENST00000397910.4	-	3	25349	c.25146G>T	c.(25144-25146)atG>atT	p.M8382I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8384	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGTGGTACCCATTGGAGATG	0.478																																						dbGAP											0													171.0	163.0	166.0					19																	9062300		2045	4187	6232	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.25146G>T	19.37:g.9062300C>A	ENSP00000381008:p.Met8382Ile		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.M8382I	ENST00000397910.4	37	c.25146	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	4.403	0.074526	0.08485	.	.	ENSG00000181143	ENST00000397910	T	0.24538	1.85	2.71	-4.61	0.03380	.	.	.	.	.	T	0.13415	0.0325	L	0.27053	0.805	.	.	.	B	0.10296	0.003	B	0.13407	0.009	T	0.33266	-0.9875	8	0.87932	D	0	.	2.0648	0.03600	0.4804:0.2498:0.1578:0.1121	.	8382	B5ME49	.	I	8382	ENSP00000381008:M8382I	ENSP00000381008:M8382I	M	-	3	0	MUC16	8923300	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.813000	0.00753	-0.835000	0.04234	-0.750000	0.03501	ATG	MUC16	-	NULL	ENSG00000181143		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	246	0.00	0	C	NM_024690		9062300	9062300	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	244	36.60	142	SNP	0.000	A
MUC6	4588	genome.wustl.edu	37	11	1015883	1015883	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr11:1015883delC	ENST00000421673.2	-	31	6968	c.6918delG	c.(6916-6918)aggfs	p.R2306fs		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2306	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GACCAGGGTGCCTGGTGGTAA	0.612																																						dbGAP											0													110.0	126.0	120.0					11																	1015883		2155	4233	6388	-	-	-	SO:0001589	frameshift_variant	0			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6918delG	11.37:g.1015883delC	ENSP00000406861:p.Arg2306fs		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Frame_Shift_Del	DEL	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.R2306fs	ENST00000421673.2	37	c.6918	CCDS44513.1	11																																																																																			MUC6	-	NULL	ENSG00000184956		0.612	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	16	0.00	0	C	XM_290540		1015883	1015883	-1	no_errors	ENST00000421673	ensembl	human	known	69_37n	frame_shift_del	11	35.29	6	DEL	0.000	-
MUC6	4588	genome.wustl.edu	37	11	1015892	1015893	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr11:1015892_1015893insG	ENST00000421673.2	-	31	6958_6959	c.6908_6909insC	c.(6907-6909)cttfs	p.L2303fs		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2303	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCTGGTGGTAAGGTTGGTGAC	0.614																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6908_6909insC	11.37:g.1015892_1015893insG	ENSP00000406861:p.Leu2303fs		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Frame_Shift_Ins	INS	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.T2304fs	ENST00000421673.2	37	c.6909_6908	CCDS44513.1	11																																																																																			MUC6	-	NULL	ENSG00000184956		0.614	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	14	0.00	0	-	XM_290540		1015892	1015893	-1	no_errors	ENST00000421673	ensembl	human	known	69_37n	frame_shift_ins	9	40.00	6	INS	0.146:0.046	G
MYH14	79784	genome.wustl.edu	37	19	50735280	50735280	+	Missense_Mutation	SNP	C	C	G	rs151082668		TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr19:50735280C>G	ENST00000596571.1	+	8	1043	c.1043C>G	c.(1042-1044)aCg>aGg	p.T348R	MYH14_ENST00000425460.1_Missense_Mutation_p.T356R|MYH14_ENST00000440075.2_Missense_Mutation_p.T356R|MYH14_ENST00000262269.8_Missense_Mutation_p.T356R|MYH14_ENST00000376970.2_Missense_Mutation_p.T348R|MYH14_ENST00000601313.1_Missense_Mutation_p.T356R|MYH14_ENST00000598205.1_Missense_Mutation_p.T356R			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	348	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TTCCAGGAGACGCTGGAGTCG	0.667																																						dbGAP											0													36.0	39.0	38.0					19																	50735280		1948	4128	6076	-	-	-	SO:0001583	missense	0			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.1043C>G	19.37:g.50735280C>G	ENSP00000472819:p.Thr348Arg		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.T356R	ENST00000596571.1	37	c.1067	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	C	22.7	4.317954	0.81469	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43	4.09	4.09	0.47781	Myosin head, motor domain (2);	.	.	.	.	D	0.97068	0.9042	H	0.99650	4.68	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	D	0.98147	1.0439	9	0.87932	D	0	.	14.1722	0.65517	0.0:1.0:0.0:0.0	.	356;348;356	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	R	348;356;348;356;348;356	ENSP00000406273:T356R;ENSP00000366169:T348R;ENSP00000407879:T356R;ENSP00000262269:T356R	ENSP00000262269:T356R	T	+	2	0	MYH14	55427092	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	6.986000	0.76200	2.292000	0.77174	0.491000	0.48974	ACG	MYH14	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000105357		0.667	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2	66	0.00	0	C	NM_024729		50735280	50735280	+1	no_errors	ENST00000262269	ensembl	human	known	69_37n	missense	21	41.67	15	SNP	1.000	G
MYOM3	127294	genome.wustl.edu	37	1	24384096	24384096	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr1:24384096C>T	ENST00000374434.3	-	37	4234	c.4072G>A	c.(4072-4074)Gtc>Atc	p.V1358I	MYOM3_ENST00000338909.5_Missense_Mutation_p.V251I|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000330966.7_Missense_Mutation_p.V1361I	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1358	Ig-like C2-type 4.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCTCCTGAGACGATGCAAGTC	0.517																																						dbGAP											0													69.0	70.0	70.0					1																	24384096		1965	4147	6112	-	-	-	SO:0001583	missense	0			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.4072G>A	1.37:g.24384096C>T	ENSP00000363557:p.Val1358Ile		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V1361I	ENST00000374434.3	37	c.4081	CCDS41281.1	1	.	.	.	.	.	.	.	.	.	.	C	7.702	0.693292	0.15039	.	.	ENSG00000142661	ENST00000338909;ENST00000374434;ENST00000330966;ENST00000374442	T;T;T	0.72051	-0.62;-0.62;-0.62	4.71	2.39	0.29439	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.264128	0.37095	N	0.002244	T	0.45776	0.1359	N	0.11427	0.14	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.11329	0.001;0.006	T	0.13098	-1.0522	10	0.13853	T	0.58	.	8.8073	0.34945	0.0:0.2275:0.0:0.7725	.	1358;251	Q5VTT5;Q5VTT5-3	MYOM3_HUMAN;.	I	251;1358;1361;252	ENSP00000342689:V251I;ENSP00000363557:V1358I;ENSP00000332670:V1361I	ENSP00000332670:V1361I	V	-	1	0	MYOM3	24256683	0.947000	0.32204	1.000000	0.80357	0.614000	0.37383	0.100000	0.15231	0.324000	0.23333	-0.238000	0.12139	GTC	MYOM3	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000142661		0.517	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYOM3	HGNC	protein_coding	OTTHUMT00000008272.2	88	0.00	0	C	NM_152372		24384096	24384096	-1	no_errors	ENST00000330966	ensembl	human	known	69_37n	missense	61	34.41	32	SNP	0.877	T
NAP1L2	4674	genome.wustl.edu	37	X	72433777	72433777	+	Silent	SNP	C	C	T			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chrX:72433777C>T	ENST00000373517.3	-	1	907	c.552G>A	c.(550-552)gaG>gaA	p.E184E	NAP1L2_ENST00000536638.1_Silent_p.E42E	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	184	Glu-rich (acidic).				nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TACCATACATCTCTTCATGAC	0.408																																						dbGAP											0													184.0	155.0	165.0					X																	72433777		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.552G>A	X.37:g.72433777C>T			B2RE61|B4E161|Q8TAN6	Silent	SNP	pfam_NAP_family	p.E184	ENST00000373517.3	37	c.552	CCDS14423.1	X																																																																																			NAP1L2	-	pfam_NAP_family	ENSG00000186462		0.408	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L2	HGNC	protein_coding	OTTHUMT00000057225.1	352	0.00	0	C	NM_021963		72433777	72433777	-1	no_errors	ENST00000373517	ensembl	human	known	69_37n	silent	80	64.44	145	SNP	0.100	T
NIPBL	25836	genome.wustl.edu	37	5	36985957	36985957	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr5:36985957G>T	ENST00000282516.8	+	10	3174	c.2675G>T	c.(2674-2676)aGt>aTt	p.S892I	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.S892I	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	892					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGACCTGACAGTCCTCGTGTT	0.378																																						dbGAP											0													51.0	54.0	53.0					5																	36985957		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.2675G>T	5.37:g.36985957G>T	ENSP00000282516:p.Ser892Ile		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S892I	ENST00000282516.8	37	c.2675	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924957	0.34002	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.94497	-3.44;-3.44	5.99	5.99	0.97316	.	0.154834	0.64402	D	0.000016	D	0.90352	0.6981	N	0.24115	0.695	0.46499	D	0.999075	B;P	0.37207	0.244;0.587	B;B	0.36289	0.11;0.221	D	0.90741	0.4650	10	0.66056	D	0.02	.	16.6927	0.85326	0.0:0.1292:0.8708:0.0	.	892;892	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	I	892	ENSP00000282516:S892I;ENSP00000406266:S892I	ENSP00000282516:S892I	S	+	2	0	NIPBL	37021714	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.777000	0.68931	2.840000	0.97914	0.655000	0.94253	AGT	NIPBL	-	NULL	ENSG00000164190		0.378	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	235	0.00	0	G	NM_015384		36985957	36985957	+1	no_errors	ENST00000282516	ensembl	human	known	69_37n	missense	379	27.26	142	SNP	1.000	T
NOD2	64127	genome.wustl.edu	37	16	50733855	50733855	+	Missense_Mutation	SNP	C	C	G	rs144368009		TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr16:50733855C>G	ENST00000300589.2	+	2	635	c.530C>G	c.(529-531)cCg>cGg	p.P177R	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	177	CARD 2. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				ATCTTCACACCGTCCCAGAGG	0.542																																						dbGAP											0													67.0	56.0	60.0					16																	50733855		2198	4300	6498	-	-	-	SO:0001583	missense	0			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.530C>G	16.37:g.50733855C>G	ENSP00000300589:p.Pro177Arg		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD	p.P177R	ENST00000300589.2	37	c.530	CCDS10746.1	16	.	.	.	.	.	.	.	.	.	.	C	13.69	2.311967	0.40895	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.17691	2.26	5.29	5.29	0.74685	DEATH-like (2);Caspase Recruitment (2);	0.632714	0.14057	N	0.344312	T	0.13586	0.0329	L	0.27053	0.805	0.23126	N	0.998253	P	0.37038	0.579	B	0.32583	0.148	T	0.15292	-1.0442	10	0.52906	T	0.07	.	14.4314	0.67254	0.0:1.0:0.0:0.0	.	177	Q9HC29	NOD2_HUMAN	R	150;177	ENSP00000300589:P177R	ENSP00000300589:P177R	P	+	2	0	NOD2	49291356	0.717000	0.27966	0.111000	0.21465	0.299000	0.27559	4.021000	0.57196	2.471000	0.83476	0.591000	0.81541	CCG	NOD2	-	pfam_CARD,superfamily_DEATH-like,pfscan_CARD	ENSG00000167207		0.542	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD2	HGNC	protein_coding	OTTHUMT00000256876.2	50	0.00	0	C	NM_022162		50733855	50733855	+1	no_errors	ENST00000300589	ensembl	human	known	69_37n	missense	20	42.86	15	SNP	0.295	G
OR1A2	26189	genome.wustl.edu	37	17	3101670	3101670	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr17:3101670C>G	ENST00000381951.1	+	1	858	c.858C>G	c.(856-858)ttC>ttG	p.F286L		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	286					positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TAAATCCTTTCATCTATAGTC	0.468																																						dbGAP											0													115.0	113.0	114.0					17																	3101670		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"""GPCR / Class A : Olfactory receptors"""	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.858C>G	17.37:g.3101670C>G	ENSP00000371377:p.Phe286Leu		Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F286L	ENST00000381951.1	37	c.858	CCDS11021.1	17	.	.	.	.	.	.	.	.	.	.	C	9.521	1.108366	0.20714	.	.	ENSG00000172150	ENST00000381951	T	0.34667	1.35	4.0	1.95	0.26073	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000080	T	0.17959	0.0431	N	0.12443	0.215	0.26806	N	0.969108	P	0.34662	0.462	B	0.30401	0.115	T	0.16689	-1.0394	10	0.87932	D	0	.	8.466	0.32956	0.0:0.7445:0.1608:0.0947	.	286	Q9Y585	OR1A2_HUMAN	L	286	ENSP00000371377:F286L	ENSP00000371377:F286L	F	+	3	2	OR1A2	3048420	0.008000	0.16893	1.000000	0.80357	0.215000	0.24574	-1.337000	0.02657	1.006000	0.39211	0.543000	0.68304	TTC	OR1A2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	ENSG00000172150		0.468	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1A2	HGNC	protein_coding	OTTHUMT00000207293.1	332	0.00	0	C	NM_012352		3101670	3101670	+1	no_errors	ENST00000381951	ensembl	human	known	69_37n	missense	82	56.15	105	SNP	1.000	G
OR5H1	26341	genome.wustl.edu	37	3	97851825	97851825	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr3:97851825C>G	ENST00000354565.2	+	1	284	c.284C>G	c.(283-285)tCt>tGt	p.S95C	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						ATATCTCTCTCTGAATGCAAG	0.398																																						dbGAP											0													163.0	161.0	162.0					3																	97851825		2203	4299	6502	-	-	-	SO:0001583	missense	0			X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.284C>G	3.37:g.97851825C>G	ENSP00000346575:p.Ser95Cys			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S95C	ENST00000354565.2	37	c.284	CCDS33797.1	3	.	.	.	.	.	.	.	.	.	.	C	6.241	0.412594	0.11812	.	.	ENSG00000231192	ENST00000354565	T	0.00408	7.54	3.57	1.68	0.24146	GPCR, rhodopsin-like superfamily (1);	0.850774	0.10038	N	0.723898	T	0.00552	0.0018	L	0.51853	1.615	0.09310	N	1	D	0.60575	0.988	P	0.58077	0.832	T	0.53830	-0.8383	10	0.46703	T	0.11	.	2.9033	0.05713	0.219:0.5391:0.0:0.2419	.	95	A6NKK0	OR5H1_HUMAN	C	95	ENSP00000346575:S95C	ENSP00000346575:S95C	S	+	2	0	OR5H1	99334515	0.000000	0.05858	0.426000	0.26672	0.053000	0.15095	-2.139000	0.01302	0.180000	0.19960	0.195000	0.17529	TCT	OR5H1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000231192		0.398	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H1	HGNC	protein_coding	OTTHUMT00000359100.2	625	0.00	0	C	NM_001005338		97851825	97851825	+1	no_errors	ENST00000354565	ensembl	human	known	69_37n	missense	346	34.77	185	SNP	0.004	G
PHF8	23133	genome.wustl.edu	37	X	54014274	54014274	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chrX:54014274C>G	ENST00000357988.5	-	15	2300	c.1942G>C	c.(1942-1944)Gac>Cac	p.D648H	PHF8_ENST00000338154.6_Missense_Mutation_p.D612H|PHF8_ENST00000322659.8_Missense_Mutation_p.D612H|PHF8_ENST00000338946.6_Missense_Mutation_p.D511H	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	648					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GAATCCAAGTCAAATTCGTCT	0.448																																						dbGAP											0													266.0	184.0	212.0					X																	54014274		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.1942G>C	X.37:g.54014274C>G	ENSP00000350676:p.Asp648His		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.D648H	ENST00000357988.5	37	c.1942	CCDS55420.1	X	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	21.6|21.6|21.6	4.174300|4.174300|4.174300	0.78452|0.78452|0.78452	.|.|.	.|.|.	ENSG00000172943|ENSG00000172943|ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000375189;ENST00000322659|ENST00000396282|ENST00000443302	T;T;T;T|.|.	0.30448|.|.	2.25;2.0;2.03;1.53|.|.	5.47|5.47|5.47	4.61|4.61|4.61	0.57282|0.57282|0.57282	.|.|.	0.612095|.|.	0.17104|.|.	N|.|.	0.186872|.|.	T|T|.	0.47135|0.47135|.	0.1429|0.1429|.	L|L|L	0.32530|0.32530|0.32530	0.975|0.975|0.975	0.34707|0.34707|0.34707	D|D|D	0.727313|0.727313|0.727313	D;D;D;D;D|.|.	0.89917|.|.	1.0;0.981;0.995;0.997;0.995|.|.	D;P;P;D;P|.|.	0.70935|.|.	0.971;0.695;0.753;0.919;0.831|.|.	T|T|.	0.56019|0.56019|.	-0.8048|-0.8048|.	10|5|.	0.40728|.|.	T|.|.	0.16|.|.	-16.5887|-16.5887|-16.5887	10.6417|10.6417|10.6417	0.45596|0.45596|0.45596	0.0:0.9066:0.0:0.0934|0.0:0.9066:0.0:0.0934|0.0:0.9066:0.0:0.0934	.|.|.	134;612;511;547;648|.|.	B3KMV4;Q9UPP1-2;B7Z911;Q9UPP1-3;Q9UPP1|.|.	.;.;.;.;PHF8_HUMAN|.|.	H|F|S	648;612;511;541;88;612|515|375	ENSP00000350676:D648H;ENSP00000338868:D612H;ENSP00000340051:D511H;ENSP00000319473:D612H|.|.	ENSP00000319473:D612H|.|.	D|L|X	-|-|-	1|3|2	0|2|2	PHF8|PHF8|PHF8	54030999|54030999|54030999	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.823000|0.823000|0.823000	0.46562|0.46562|0.46562	4.549000|4.549000|4.549000	0.60726|0.60726|0.60726	1.062000|1.062000|1.062000	0.40625|0.40625|0.40625	0.594000|0.594000|0.594000	0.82650|0.82650|0.82650	GAC|TTG|TGA	PHF8	-	NULL	ENSG00000172943		0.448	PHF8-001	KNOWN	basic|CCDS	protein_coding	PHF8	HGNC	protein_coding	OTTHUMT00000056784.2	101	0.00	0	C	NM_015107		54014274	54014274	-1	no_errors	ENST00000357988	ensembl	human	known	69_37n	missense	18	63.27	31	SNP	1.000	G
PLA2G4A	5321	genome.wustl.edu	37	1	186901903	186901903	+	Silent	SNP	G	G	T			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr1:186901903G>T	ENST00000367466.3	+	8	719	c.567G>T	c.(565-567)gtG>gtT	p.V189V	PLA2G4A_ENST00000442353.2_Silent_p.V129V|PLA2G4A_ENST00000466600.1_Intron	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	189	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	AGGTGCCTGTGGTAGCCATAT	0.418																																						dbGAP											0													178.0	177.0	177.0					1																	186901903		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.567G>T	1.37:g.186901903G>T			B1AKG4|Q29R80	Silent	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom	p.V189	ENST00000367466.3	37	c.567	CCDS1372.1	1																																																																																			PLA2G4A	-	superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom	ENSG00000116711		0.418	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G4A	HGNC	protein_coding	OTTHUMT00000086236.1	138	0.00	0	G	NM_024420		186901903	186901903	+1	no_errors	ENST00000367466	ensembl	human	known	69_37n	silent	123	19.08	29	SNP	1.000	T
PLA2G4F	255189	genome.wustl.edu	37	15	42442039	42442039	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr15:42442039C>T	ENST00000382396.4	-	11	1017	c.931G>A	c.(931-933)Gac>Aac	p.D311N	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.D311N			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	311	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		AGGTCTAGGTCCCCGGAGCTG	0.637																																						dbGAP											0													67.0	66.0	67.0					15																	42442039		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.931G>A	15.37:g.42442039C>T	ENSP00000371833:p.Asp311Asn		Q6ZMC8	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom	p.D311N	ENST00000382396.4	37	c.931	CCDS32204.1	15	.	.	.	.	.	.	.	.	.	.	C	7.358	0.624224	0.14193	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000357924;ENST00000443825	T;T	0.01538	4.79;4.83	4.72	2.8	0.32819	Lysophospholipase, catalytic domain (2);	0.220116	0.30999	N	0.008441	T	0.05456	0.0144	L	0.48986	1.54	0.31348	N	0.682861	D;D	0.76494	0.999;0.999	D;D	0.69654	0.965;0.965	T	0.15896	-1.0421	10	0.25751	T	0.34	-28.3074	10.8613	0.46829	0.0:0.8414:0.0:0.1586	.	98;311	A2RRC4;Q68DD2	.;PA24F_HUMAN	N	307;311;311;311;311	ENSP00000380442:D311N;ENSP00000371833:D311N	ENSP00000290497:D307N	D	-	1	0	PLA2G4F	40229331	0.997000	0.39634	0.993000	0.49108	0.098000	0.18820	3.979000	0.56888	1.222000	0.43521	-0.136000	0.14681	GAC	PLA2G4F	-	smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom	ENSG00000168907		0.637	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLA2G4F	HGNC	protein_coding	OTTHUMT00000420463.1	44	0.00	0	C	NM_213600		42442039	42442039	-1	no_errors	ENST00000397272	ensembl	human	known	69_37n	missense	18	30.77	8	SNP	1.000	T
POLR2F	5435	genome.wustl.edu	37	22	38422077	38422077	+	Intron	SNP	G	G	T			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr22:38422077G>T	ENST00000407936.1	+	6	543							P61218	RPAB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide F						7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					CTTCAGAGAAGGTTTTGGTGG	0.602																																						dbGAP											0													72.0	65.0	67.0					22																	38422077		876	1991	2867	-	-	-	SO:0001627	intron_variant	0				CCDS13963.1	22q13.1	2013-01-21			ENSG00000100142	ENSG00000100142		"""RNA polymerase subunits"""	9193	protein-coding gene	gene with protein product	"""DNA directed RNA polymerase II 14.4 kda polypeptide"""	604414				8786150	Standard	XR_112241		Approved	RPB6, HRBP14.4	uc010gxi.3	P61218	OTTHUMG00000151160	ENST00000407936.1:c.453-14998G>T	22.37:g.38422077G>T			P41584|Q6IAY3	Missense_Mutation	SNP	NULL	p.G108C	ENST00000407936.1	37	c.322		22	.	.	.	.	.	.	.	.	.	.	G	6.086	0.384193	0.11524	.	.	ENSG00000100142	ENST00000333418	.	.	.	3.52	0.135	0.14775	.	.	.	.	.	T	0.21590	0.0520	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23691	-1.0181	4	.	.	.	.	2.7196	0.05197	0.2504:0.0:0.5235:0.226	.	.	.	.	C	108	.	.	G	+	1	0	POLR2F	36752023	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.423000	0.21313	0.096000	0.17463	0.561000	0.74099	GGT	POLR2F	-	NULL	ENSG00000100142		0.602	POLR2F-009	PUTATIVE	basic|exp_conf	protein_coding	POLR2F	HGNC	protein_coding	OTTHUMT00000321578.1	106	0.00	0	G	NM_021974		38422077	38422077	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000333418	ensembl	human	putative	69_37n	missense	73	34.23	38	SNP	0.000	T
PON3	5446	genome.wustl.edu	37	7	94993187	94993187	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr7:94993187G>A	ENST00000265627.5	-	6	693	c.683C>T	c.(682-684)tCa>tTa	p.S228L	PON3_ENST00000427422.1_Missense_Mutation_p.S228L|PON3_ENST00000451904.1_Missense_Mutation_p.S228L|PON1_ENST00000542556.1_Intron	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	228					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	CTGGTCTGCTGAGACTGTGAT	0.433																																						dbGAP											0													179.0	191.0	187.0					7																	94993187		2203	4300	6503	-	-	-	SO:0001583	missense	0			L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"""Paraoxonases"""	9206	protein-coding gene	gene with protein product	"""arylesterase 3"""	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.683C>T	7.37:g.94993187G>A	ENSP00000265627:p.Ser228Leu		A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Missense_Mutation	SNP	pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase2	p.S228L	ENST00000265627.5	37	c.683	CCDS5639.1	7	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707326	0.68615	.	.	ENSG00000105852	ENST00000265627;ENST00000427422	T;T	0.57107	0.42;0.42	5.32	5.32	0.75619	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.73999	0.3659	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.76618	-0.2893	10	0.87932	D	0	-12.5125	19.0065	0.92852	0.0:0.0:1.0:0.0	.	276;228	B4E2I0;Q15166	.;PON3_HUMAN	L	228	ENSP00000265627:S228L;ENSP00000413276:S228L	ENSP00000265627:S228L	S	-	2	0	PON3	94831123	1.000000	0.71417	0.494000	0.27515	0.169000	0.22640	8.841000	0.92131	2.668000	0.90789	0.591000	0.81541	TCA	PON3	-	pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg	ENSG00000105852		0.433	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PON3	HGNC	protein_coding	OTTHUMT00000333007.1	350	0.00	0	G	NM_000940		94993187	94993187	-1	no_errors	ENST00000265627	ensembl	human	known	69_37n	missense	240	35.31	131	SNP	1.000	A
PQBP1	10084	genome.wustl.edu	37	X	48760064	48760064	+	Silent	SNP	C	C	T			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chrX:48760064C>T	ENST00000376563.1	+	6	833	c.633C>T	c.(631-633)gaC>gaT	p.D211D	PQBP1_ENST00000473764.1_3'UTR|PQBP1_ENST00000396763.1_Silent_p.D211D|PQBP1_ENST00000218224.4_Silent_p.D211D|PQBP1_ENST00000447146.2_Silent_p.D211D|PQBP1_ENST00000376566.4_Silent_p.D116D|PQBP1_ENST00000247140.4_Silent_p.D116D	NM_001032381.1|NM_001032382.1|NM_001032383.1|NM_001167989.1	NP_001027553.1|NP_001027554.1|NP_001027555.1|NP_001161461.1	O60828	PQBP1_HUMAN	polyglutamine binding protein 1	211	Intrinsically disordered.				alternative mRNA splicing, via spliceosome (GO:0000380)|neuron projection development (GO:0031175)|regulation of dendrite morphogenesis (GO:0048814)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|neuronal ribonucleoprotein granule (GO:0071598)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ribonucleoprotein complex binding (GO:0043021)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						CATACTCAGACGCCCCCCGGT	0.572																																						dbGAP											0													117.0	81.0	93.0					X																	48760064		2202	4295	6497	-	-	-	SO:0001819	synonymous_variant	0			AJ005893	CCDS14309.1, CCDS55412.1	Xp11.23	2014-01-31			ENSG00000102103	ENSG00000102103			9330	protein-coding gene	gene with protein product		300463	"""Sutherland-Haan X-linked mental retardation syndrome"", ""mental retardation, X-linked 55"", ""mental retardation, X-linked 2 (non-dysmorphic)"""	RENS1, MRXS8, SHS, MRX55, MRX2		9875212, 15024694, 14634649	Standard	NM_144495		Approved		uc004dlg.3	O60828	OTTHUMG00000024128	ENST00000376563.1:c.633C>T	X.37:g.48760064C>T			Q4VY25|Q4VY26|Q4VY27|Q4VY29|Q4VY30|Q4VY34|Q4VY35|Q4VY36|Q4VY37|Q4VY38|Q9GZP2|Q9GZU4|Q9GZZ4	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.T105M	ENST00000376563.1	37	c.314	CCDS14309.1	X	.	.	.	.	.	.	.	.	.	.	T	7.424	0.637338	0.14386	.	.	ENSG00000102103	ENST00000456306	.	.	.	5.34	-1.21	0.09524	.	.	.	.	.	T	0.54631	0.1870	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46898	-0.9158	4	.	.	.	-11.0983	9.1795	0.37131	0.0:0.4225:0.0:0.5775	.	.	.	.	M	105	.	.	T	+	2	0	PQBP1	48645008	0.980000	0.34600	0.975000	0.42487	0.774000	0.43823	0.040000	0.13905	-0.497000	0.06641	-1.079000	0.02226	ACG	PQBP1	-	NULL	ENSG00000102103		0.572	PQBP1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	PQBP1	HGNC	protein_coding	OTTHUMT00000060777.1	29	0.00	0	C	NM_001032381.1		48760064	48760064	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000456306	ensembl	human	known	69_37n	missense	5	70.59	12	SNP	0.994	T
PRKDC	5591	genome.wustl.edu	37	8	48765336	48765336	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr8:48765336C>A	ENST00000314191.2	-	53	6956	c.6900G>T	c.(6898-6900)caG>caT	p.Q2300H	PRKDC_ENST00000338368.3_Missense_Mutation_p.Q2300H|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2301					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TCACCAAAGCCTGGAAGTATC	0.328								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	dbGAP											0													72.0	62.0	65.0					8																	48765336		1849	4096	5945	-	-	-	SO:0001583	missense	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.6900G>T	8.37:g.48765336C>A	ENSP00000313420:p.Gln2300His		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.Q2300H	ENST00000314191.2	37	c.6900		8	.	.	.	.	.	.	.	.	.	.	C	15.41	2.825833	0.50739	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.66280	-0.2;-0.2	4.2	1.61	0.23674	Armadillo-type fold (1);	0.335796	0.27558	N	0.018831	T	0.62282	0.2415	M	0.62723	1.935	0.44477	D	0.997411	P;P	0.41041	0.736;0.736	P;P	0.47645	0.553;0.553	T	0.60424	-0.7266	10	0.72032	D	0.01	.	7.0235	0.24926	0.0:0.4054:0.0:0.5946	.	2300;2301	E7EUY0;P78527	.;PRKDC_HUMAN	H	2300	ENSP00000313420:Q2300H;ENSP00000345182:Q2300H	ENSP00000313420:Q2300H	Q	-	3	2	PRKDC	48927889	0.999000	0.42202	0.996000	0.52242	0.950000	0.60333	0.621000	0.24418	0.241000	0.21283	-0.290000	0.09829	CAG	PRKDC	-	superfamily_ARM-type_fold	ENSG00000253729		0.328	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		21	0.00	0	C	NM_001081640		48765336	48765336	-1	no_errors	ENST00000314191	ensembl	human	known	69_37n	missense	9	35.71	5	SNP	1.000	A
PRSS38	339501	genome.wustl.edu	37	1	228005112	228005113	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr1:228005112_228005113GC>TT	ENST00000366757.3	+	3	538_539	c.514_515GC>TT	c.(514-516)GCa>TTa	p.A172L		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	172	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GGTTTGCCTTGCAACTCCAGAA	0.554																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"""Serine peptidases / Serine peptidases"""	29625	protein-coding gene	gene with protein product	"""marapsin 2"""					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	Exception_encountered	1.37:g.228005112_228005113delinsTT	ENSP00000355719:p.Ala172Leu		Q7RTY6	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.A172S|p.A172V	ENST00000366757.3	37	c.514|c.515	CCDS1563.1	1																																																																																			PRSS38	-	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000185888		0.554	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS38	HGNC	protein_coding	OTTHUMT00000091981.1	55	0.00	0	G|C	NM_183062		228005112|228005113	228005112|228005113	+1	no_errors	ENST00000366757	ensembl	human	known	69_37n	missense	43|44	32.81|33.33	21|22	SNP	0.000|0.008	T
RFX7	64864	genome.wustl.edu	37	15	56387080	56387080	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr15:56387080G>A	ENST00000559447.2	-	9	2826	c.2555C>T	c.(2554-2556)aCa>aTa	p.T852I	RFX7_ENST00000422057.1_Missense_Mutation_p.T852I|RFX7_ENST00000423270.1_Missense_Mutation_p.T949I|RFX7_ENST00000317318.6_Missense_Mutation_p.T949I			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	852					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						gggtgtgggtgtgggtgtgTG	0.542																																						dbGAP											0													93.0	97.0	96.0					15																	56387080		2065	4184	6249	-	-	-	SO:0001583	missense	0					15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.2555C>T	15.37:g.56387080G>A	ENSP00000453281:p.Thr852Ile		Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.T949I	ENST00000559447.2	37	c.2846		15	.	.	.	.	.	.	.	.	.	.	G	14.99	2.698872	0.48307	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.68479	-0.3;-0.33;-0.3	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.75110	0.3805	L	0.32530	0.975	0.48236	D	0.999612	D;D	0.89917	1.0;1.0	D;D	0.69307	0.963;0.963	T	0.76677	-0.2871	10	0.87932	D	0	-14.1716	18.8503	0.92225	0.0:0.0:1.0:0.0	.	852;852	Q2KHR2;C9JU50	RFX7_HUMAN;.	I	852;949;949	ENSP00000387504:T852I;ENSP00000313299:T949I;ENSP00000397644:T949I	ENSP00000313299:T949I	T	-	2	0	RFX7	54174372	1.000000	0.71417	0.998000	0.56505	0.815000	0.46073	8.087000	0.89521	2.793000	0.96121	0.563000	0.77884	ACA	RFX7	-	NULL	ENSG00000181827		0.542	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	RFX7	HGNC	protein_coding	OTTHUMT00000418841.3	75	0.00	0	G	NM_022841		56387080	56387080	-1	no_errors	ENST00000423270	ensembl	human	known	69_37n	missense	26	57.38	35	SNP	1.000	A
RNF219	79596	genome.wustl.edu	37	13	79190455	79190455	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr13:79190455C>G	ENST00000282003.6	-	6	1499	c.1441G>C	c.(1441-1443)Gaa>Caa	p.E481Q	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000560209.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	481	Ser-rich.						zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TCTGAACTTTCAAAATCTAAG	0.348																																						dbGAP											0													42.0	45.0	44.0					13																	79190455		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.1441G>C	13.37:g.79190455C>G	ENSP00000282003:p.Glu481Gln		B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	pfscan_Znf_RING	p.E481Q	ENST00000282003.6	37	c.1441	CCDS31997.1	13	.	.	.	.	.	.	.	.	.	.	C	15.39	2.819454	0.50633	.	.	ENSG00000152193	ENST00000282003	T	0.14766	2.48	6.07	6.07	0.98685	.	0.183436	0.39909	N	0.001227	T	0.19248	0.0462	L	0.44542	1.39	0.41607	D	0.988889	P	0.41366	0.747	B	0.42827	0.399	T	0.00192	-1.1935	10	0.66056	D	0.02	-10.9482	18.8399	0.92180	0.0:1.0:0.0:0.0	.	481	Q5W0B1	RN219_HUMAN	Q	481	ENSP00000282003:E481Q	ENSP00000282003:E481Q	E	-	1	0	RNF219	78088456	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.510000	0.45468	2.885000	0.99019	0.655000	0.94253	GAA	RNF219	-	NULL	ENSG00000152193		0.348	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF219	HGNC	protein_coding	OTTHUMT00000045363.1	277	0.00	0	C	NM_024546		79190455	79190455	-1	no_errors	ENST00000282003	ensembl	human	known	69_37n	missense	209	38.35	130	SNP	1.000	G
ROR1	4919	genome.wustl.edu	37	1	64515374	64515374	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr1:64515374A>T	ENST00000371079.1	+	3	550	c.175A>T	c.(175-177)Acc>Tcc	p.T59S	ROR1_ENST00000371080.1_Missense_Mutation_p.T59S|ROR1_ENST00000482426.1_3'UTR	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	59	Ig-like C2-type.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TTCTTACCTGACCCTCGATGA	0.552																																						dbGAP											0													131.0	126.0	127.0					1																	64515374		2203	4300	6503	-	-	-	SO:0001583	missense	0			M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.175A>T	1.37:g.64515374A>T	ENSP00000360120:p.Thr59Ser		Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.T59S	ENST00000371079.1	37	c.175	CCDS626.1	1	.	.	.	.	.	.	.	.	.	.	A	13.35	2.211129	0.39102	.	.	ENSG00000185483	ENST00000371080;ENST00000371079;ENST00000544776	T;T	0.75154	-0.04;-0.91	5.8	4.67	0.58626	Immunoglobulin-like (1);	0.000000	0.44285	D	0.000470	T	0.32556	0.0833	N	0.10733	0.035	0.80722	D	1	B;B	0.26002	0.139;0.0	B;B	0.27500	0.08;0.003	T	0.20107	-1.0285	10	0.19147	T	0.46	.	7.9173	0.29825	0.7941:0.1366:0.0693:0.0	.	59;59	Q01973;Q66K77	ROR1_HUMAN;.	S	59;59;62	ENSP00000360121:T59S;ENSP00000360120:T59S	ENSP00000360120:T59S	T	+	1	0	ROR1	64287962	0.998000	0.40836	0.995000	0.50966	0.839000	0.47603	2.546000	0.45778	1.008000	0.39264	0.460000	0.39030	ACC	ROR1	-	pirsf_Tyr_kinase_rcpt_ROR,pfscan_Ig-like	ENSG00000185483		0.552	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR1	HGNC	protein_coding	OTTHUMT00000025002.1	172	0.00	0	A	NM_005012		64515374	64515374	+1	no_errors	ENST00000371079	ensembl	human	known	69_37n	missense	142	22.83	42	SNP	0.998	T
SCUBE2	57758	genome.wustl.edu	37	11	9080884	9080884	+	Silent	SNP	T	T	C			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr11:9080884T>C	ENST00000309263.3	-	9	1128	c.1056A>G	c.(1054-1056)ggA>ggG	p.G352G	SCUBE2_ENST00000450649.2_Silent_p.G352G|RP11-467K18.2_ENST00000531592.1_RNA|RP11-467K18.2_ENST00000521394.2_RNA|SCUBE2_ENST00000457346.2_Silent_p.G352G|SCUBE2_ENST00000520467.1_Silent_p.G352G			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	352	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		ATAATTTAAATCCTTTCTTGC	0.463																																						dbGAP											0													84.0	76.0	78.0					11																	9080884		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.1056A>G	11.37:g.9080884T>C			Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.D76G	ENST00000309263.3	37	c.227		11	.	.	.	.	.	.	.	.	.	.	T	8.817	0.936684	0.18206	.	.	ENSG00000175356	ENST00000519788;ENST00000531429	.	.	.	5.85	4.72	0.59763	.	.	.	.	.	T	0.55593	0.1930	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52902	-0.8513	4	.	.	.	.	5.9998	0.19515	0.0:0.1395:0.2478:0.6127	.	.	.	.	G	76;117	.	.	D	-	2	0	SCUBE2	9037460	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.031000	0.30165	1.041000	0.40125	0.477000	0.44152	GAT	SCUBE2	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like	ENSG00000175356		0.463	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	SCUBE2	HGNC	protein_coding	OTTHUMT00000385812.2	45	0.00	0	T	NM_020974		9080884	9080884	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000519788	ensembl	human	novel	69_37n	missense	26	42.55	20	SNP	1.000	C
SLC44A5	204962	genome.wustl.edu	37	1	75693466	75693466	+	Silent	SNP	C	C	T			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr1:75693466C>T	ENST00000370855.5	-	13	1043	c.930G>A	c.(928-930)ggG>ggA	p.G310G	SLC44A5_ENST00000370859.3_Silent_p.G310G|SLC44A5_ENST00000535611.1_Silent_p.G180G	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	310					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TAGTCTGAATCCCGATGTCAT	0.338																																						dbGAP											0													107.0	106.0	106.0					1																	75693466		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.930G>A	1.37:g.75693466C>T			B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Silent	SNP	pfam_Choline_transptr-like	p.G310	ENST00000370855.5	37	c.930	CCDS667.1	1																																																																																			SLC44A5	-	NULL	ENSG00000137968		0.338	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC44A5	HGNC	protein_coding	OTTHUMT00000026921.1	122	0.00	0	C	NM_152697		75693466	75693466	-1	no_errors	ENST00000370855	ensembl	human	known	69_37n	silent	77	18.09	17	SNP	0.992	T
TOMM20	9804	genome.wustl.edu	37	1	235291201	235291201	+	Intron	SNP	C	C	T			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr1:235291201C>T	ENST00000366607.4	-	1	342				SNORA14B_ENST00000384452.1_RNA	NM_014765.2	NP_055580.1	Q15388	TOM20_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)						cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	ER-mitochondrion membrane contact site (GO:0044233)|integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)|unfolded protein binding (GO:0051082)			lung(2)|prostate(1)	3	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)			AGCATTCACTCATATCTTGGA	0.483																																						dbGAP											0													113.0	113.0	113.0					1																	235291201		876	1991	2867	-	-	-	SO:0001627	intron_variant	0				CCDS1603.1	1q42	2008-07-18			ENSG00000173726	ENSG00000173726			20947	protein-coding gene	gene with protein product	"""translocase of outer mitochondrial membrane 20 homolog type II"""	601848				7498524, 7589431, 15733919	Standard	NM_014765		Approved	KIAA0016, TOM20, MOM19, MAS20	uc001hwl.3	Q15388	OTTHUMG00000039619	ENST00000366607.4:c.121+708G>A	1.37:g.235291201C>T			A8K195|Q498B3|Q6IBT4	RNA	SNP	-	NULL	ENST00000366607.4	37	NULL	CCDS1603.1	1																																																																																			SNORA14B	-	-	ENSG00000207181		0.483	TOMM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORA14B	HGNC	protein_coding	OTTHUMT00000095551.1	106	0.00	0	C	NM_014765		235291201	235291201	-1	no_errors	ENST00000384452	ensembl	human	known	69_37n	rna	53	43.62	41	SNP	1.000	T
SNRPC	6631	genome.wustl.edu	37	6	34738134	34738134	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr6:34738134T>C	ENST00000244520.5	+	5	455	c.317T>C	c.(316-318)aTg>aCg	p.M106T	SNRPC_ENST00000374017.3_Missense_Mutation_p.M127T|SNRPC_ENST00000474635.1_3'UTR|SNRPC_ENST00000374018.1_Missense_Mutation_p.M65T	NM_003093.2	NP_003084.1			small nuclear ribonucleoprotein polypeptide C											endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						ATGCCAATGATGGGCCCTCCT	0.507																																					NSCLC(131;576 1831 5287 11175 13324)	dbGAP											0													88.0	90.0	90.0					6																	34738134		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS34436.1	6p21	2014-03-06			ENSG00000124562	ENSG00000124562			11157	protein-coding gene	gene with protein product		603522				2971157, 8532530	Standard	NR_029472		Approved	U1-C, Yhc1	uc003ojt.2	P09234	OTTHUMG00000014555	ENST00000244520.5:c.317T>C	6.37:g.34738134T>C	ENSP00000244520:p.Met106Thr			Missense_Mutation	SNP	pfam_Znf_U1-C,smart_Znf_U1,pirsf_U1_snRNP-C,pfscan_Znf_C2H2_matrin	p.M127T	ENST00000244520.5	37	c.380	CCDS34436.1	6	.	.	.	.	.	.	.	.	.	.	T	18.14	3.557204	0.65425	.	.	ENSG00000124562	ENST00000244520;ENST00000374018;ENST00000374017	T;T;T	0.52754	0.65;0.65;0.65	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	M	0.67953	2.075	0.80722	D	1	P	0.44090	0.826	B	0.31751	0.135	T	0.13953	-1.0490	10	0.21540	T	0.41	.	15.0021	0.71483	0.0:0.0:0.0:1.0	.	106	P09234	RU1C_HUMAN	T	106;65;127	ENSP00000244520:M106T;ENSP00000363130:M65T;ENSP00000363129:M127T	ENSP00000244520:M106T	M	+	2	0	SNRPC	34846112	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.782000	0.85680	1.953000	0.56701	0.523000	0.50628	ATG	SNRPC	-	pirsf_U1_snRNP-C	ENSG00000124562		0.507	SNRPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRPC	HGNC	protein_coding	OTTHUMT00000040255.1	88	0.00	0	T	NM_003093		34738134	34738134	+1	no_errors	ENST00000374017	ensembl	human	known	69_37n	missense	51	15.00	9	SNP	1.000	C
SP1	6667	genome.wustl.edu	37	12	53775484	53775484	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr12:53775484A>T	ENST00000327443.4	+	2	147	c.49A>T	c.(49-51)Att>Ttt	p.I17F	SP1_ENST00000426431.2_Missense_Mutation_p.I10F	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	17	Repressor domain.				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|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)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		TGTGGTGAAAATTGAAAAAGG	0.428											OREG0021870	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													128.0	126.0	127.0					12																	53775484		2203	4300	6503	-	-	-	SO:0001583	missense	0			J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11205	protein-coding gene	gene with protein product	"""specificity protein 1"""	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.49A>T	12.37:g.53775484A>T	ENSP00000329357:p.Ile17Phe	995	E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I17F	ENST00000327443.4	37	c.49	CCDS8857.1	12	.	.	.	.	.	.	.	.	.	.	A	13.68	2.308635	0.40895	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.09911	2.95;2.93	4.74	4.74	0.60224	.	0.000000	0.43919	D	0.000501	T	0.06690	0.0171	N	0.08118	0	0.38002	D	0.934269	P	0.34662	0.462	B	0.36534	0.227	T	0.39742	-0.9599	10	0.51188	T	0.08	.	10.9237	0.47180	1.0:0.0:0.0:0.0	.	17	P08047	SP1_HUMAN	F	17;10	ENSP00000329357:I17F;ENSP00000404263:I10F	ENSP00000329357:I17F	I	+	1	0	SP1	52061751	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.140000	0.58031	1.911000	0.55334	0.460000	0.39030	ATT	SP1	-	NULL	ENSG00000185591		0.428	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP1	HGNC	protein_coding	OTTHUMT00000407044.1	69	0.00	0	A			53775484	53775484	+1	no_errors	ENST00000327443	ensembl	human	known	69_37n	missense	18	28.00	7	SNP	1.000	T
SUGP1	57794	genome.wustl.edu	37	19	19391074	19391074	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr19:19391074C>T	ENST00000247001.5	-	9	1617	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K		NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	424					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						TTCCCCTTCTCATAGCCGAGC	0.597																																						dbGAP											0													89.0	80.0	83.0					19																	19391074		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.1270G>A	19.37:g.19391074C>T	ENSP00000247001:p.Glu424Lys		O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Missense_Mutation	SNP	pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom	p.E424K	ENST00000247001.5	37	c.1270	CCDS12399.1	19	.	.	.	.	.	.	.	.	.	.	C	12.89	2.072993	0.36566	.	.	ENSG00000105705	ENST00000247001	T	0.22134	1.97	4.6	4.6	0.57074	.	0.213520	0.39146	N	0.001444	T	0.11580	0.0282	N	0.08118	0	0.80722	D	1	B	0.18610	0.029	B	0.12837	0.008	T	0.13656	-1.0501	10	0.17369	T	0.5	.	15.9725	0.80031	0.0:1.0:0.0:0.0	.	424	Q8IWZ8	SUGP1_HUMAN	K	424	ENSP00000247001:E424K	ENSP00000247001:E424K	E	-	1	0	SUGP1	19252074	1.000000	0.71417	0.998000	0.56505	0.652000	0.38707	5.302000	0.65733	2.128000	0.65567	0.313000	0.20887	GAG	SUGP1	-	NULL	ENSG00000105705		0.597	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUGP1	HGNC	protein_coding	OTTHUMT00000460128.4	38	0.00	0	C	NM_021164		19391074	19391074	-1	no_errors	ENST00000247001	ensembl	human	known	69_37n	missense	27	20.59	7	SNP	1.000	T
THSD7B	80731	genome.wustl.edu	37	2	138000128	138000128	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr2:138000128G>A	ENST00000409968.1	+	10	2430	c.2252G>A	c.(2251-2253)aGg>aAg	p.R751K	THSD7B_ENST00000413152.2_Missense_Mutation_p.R720K|THSD7B_ENST00000272643.3_Missense_Mutation_p.R751K|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	751	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCCTGCCCAAGGATGTGCCAA	0.473																																						dbGAP											0													101.0	98.0	99.0					2																	138000128		1997	4187	6184	-	-	-	SO:0001583	missense	0					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2252G>A	2.37:g.138000128G>A	ENSP00000387145:p.Arg751Lys			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.R751K	ENST00000409968.1	37	c.2252		2	.	.	.	.	.	.	.	.	.	.	G	11.37	1.618337	0.28801	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.17854	2.25;2.25;2.25	5.78	2.82	0.32997	.	0.405099	0.28700	N	0.014432	T	0.06872	0.0175	N	0.11427	0.14	0.21802	N	0.999534	B;B	0.11235	0.003;0.004	B;B	0.12156	0.007;0.002	T	0.40942	-0.9536	10	0.02654	T	1	.	8.5644	0.33531	0.1673:0.2317:0.601:0.0	.	751;720	Q9C0I4;C9JKN6	THS7B_HUMAN;.	K	751;751;720	ENSP00000387145:R751K;ENSP00000272643:R751K;ENSP00000413841:R720K	ENSP00000272643:R751K	R	+	2	0	THSD7B	137716598	0.000000	0.05858	0.001000	0.08648	0.944000	0.59088	0.848000	0.27710	0.801000	0.34066	0.655000	0.94253	AGG	THSD7B	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000144229		0.473	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	61	0.00	0	G	XM_046570.9		138000128	138000128	+1	no_errors	ENST00000272643	ensembl	human	known	69_37n	missense	44	34.33	23	SNP	0.004	A
TP53	7157	genome.wustl.edu	37	17	7578460	7578461	+	Frame_Shift_Ins	INS	-	-	G	rs121912654		TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr17:7578460_7578461insG	ENST00000269305.4	-	5	658_659	c.469_470insC	c.(469-471)gtcfs	p.V157fs	TP53_ENST00000413465.2_Frame_Shift_Ins_p.V157fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.V157fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.V157fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.V157fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Ins_p.V157fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	157	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9419979}.|V -> L (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V157F(161)|p.V157I(10)|p.V157D(8)|p.0?(8)|p.V157G(7)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.V157A(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R156_V157insV(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CATGGCGCGGACGCGGGTGCCG	0.619		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	247	Substitution - Missense(205)|Deletion - Frameshift(15)|Deletion - In frame(14)|Whole gene deletion(8)|Insertion - Frameshift(3)|Insertion - In frame(1)|Complex - frameshift(1)	lung(70)|liver(30)|upper_aerodigestive_tract(27)|breast(21)|oesophagus(17)|ovary(14)|stomach(10)|large_intestine(9)|central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(8)|bone(5)|vulva(4)|urinary_tract(4)|skin(3)|biliary_tract(3)|pancreas(3)|endometrium(2)|kidney(2)|soft_tissue(2)|prostate(2)|adrenal_gland(1)|salivary_gland(1)|thymus(1)																																								-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.469_470insC	17.37:g.7578460_7578461insG	ENSP00000269305:p.Val157fs		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.V157fs	ENST00000269305.4	37	c.470_469	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.619	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	76	0.00	0	-	NM_000546		7578460	7578461	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	frame_shift_ins	21	43.24	16	INS	0.906:0.032	G
TP53	7157	genome.wustl.edu	37	17	7578465	7578465	+	Silent	SNP	G	G	T			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr17:7578465G>T	ENST00000269305.4	-	5	654	c.465C>A	c.(463-465)acC>acA	p.T155T	TP53_ENST00000413465.2_Silent_p.T155T|TP53_ENST00000359597.4_Silent_p.T155T|TP53_ENST00000445888.2_Silent_p.T155T|TP53_ENST00000420246.2_Silent_p.T155T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Silent_p.T155T	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	155	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1868473}.|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation). {ECO:0000269|PubMed:14660794}.|T -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.?(5)|p.T155T(5)|p.P152fs*14(4)|p.P153fs*22(2)|p.T155fs*23(2)|p.R156fs*25(2)|p.G154fs*14(2)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*18(1)|p.T155_R156delTR(1)|p.P151_V173del23(1)|p.D148fs*23(1)|p.R156fs*14(1)|p.S149fs*72(1)|p.G154_R156delGTR(1)|p.D148_T155delDSTPPPGT(1)|p.R156_A161del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGCGGACGCGGGTGCCGGGCG	0.612		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	41	Deletion - Frameshift(15)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(5)|Substitution - coding silent(5)|Insertion - Frameshift(2)	skin(6)|oesophagus(6)|stomach(4)|ovary(4)|bone(4)|upper_aerodigestive_tract(3)|lung(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|liver(2)|pancreas(2)|soft_tissue(1)											50.0	52.0	51.0					17																	7578465		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.465C>A	17.37:g.7578465G>T			Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Silent	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.T155	ENST00000269305.4	37	c.465	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	87	0.00	0	G	NM_000546		7578465	7578465	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	silent	19	52.38	22	SNP	0.012	T
TRAF3IP3	80342	genome.wustl.edu	37	1	209951472	209951472	+	Silent	SNP	A	A	G			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr1:209951472A>G	ENST00000367024.1	+	13	1722	c.1206A>G	c.(1204-1206)tcA>tcG	p.S402S	TRAF3IP3_ENST00000010338.4_Silent_p.S382S|TRAF3IP3_ENST00000477431.1_Intron|TRAF3IP3_ENST00000400959.3_Silent_p.S382S|TRAF3IP3_ENST00000367023.1_Silent_p.S138S|TRAF3IP3_ENST00000367026.3_Silent_p.S382S|TRAF3IP3_ENST00000367025.3_Silent_p.S402S			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	402						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TAAAAAGGTCAGAGGCAGAGA	0.433																																						dbGAP											0													104.0	102.0	102.0					1																	209951472		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.1206A>G	1.37:g.209951472A>G			A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Silent	SNP	NULL	p.S402	ENST00000367024.1	37	c.1206	CCDS1490.2	1																																																																																			TRAF3IP3	-	NULL	ENSG00000009790		0.433	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRAF3IP3	HGNC	protein_coding	OTTHUMT00000088734.2	240	0.00	0	A			209951472	209951472	+1	no_errors	ENST00000367024	ensembl	human	known	69_37n	silent	134	13.46	21	SNP	0.997	G
TRAPPC2	6399	genome.wustl.edu	37	X	13734771	13734771	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chrX:13734771G>C	ENST00000380579.1	-	4	312	c.120C>G	c.(118-120)ttC>ttG	p.F40L	TRAPPC2_ENST00000458511.2_Missense_Mutation_p.F74L|TRAPPC2_ENST00000358231.5_Missense_Mutation_p.F40L|TRAPPC2_ENST00000359680.5_Missense_Mutation_p.F40L|TRAPPC2_ENST00000453655.2_Missense_Mutation_p.F40L|TRAPPC2_ENST00000519885.1_Missense_Mutation_p.F40L			P0DI81	TPC2A_HUMAN	trafficking protein particle complex 2	40					ER to Golgi vesicle-mediated transport (GO:0006888)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ion channel binding (GO:0044325)|transcription factor binding (GO:0008134)			kidney(1)	1						CATGAGCTATGAACTGGTTCA	0.443																																						dbGAP											0													62.0	58.0	59.0					X																	13734771		2046	4161	6207	-	-	-	SO:0001583	missense	0			AF157061	CCDS48082.1, CCDS48083.1, CCDS48083.2	Xp22	2011-10-10	2005-01-26		ENSG00000196459	ENSG00000196459		"""Trafficking protein particle complex"""	23068	protein-coding gene	gene with protein product		300202	"""spondyloepiphyseal dysplasia, late"""	SEDL		14597397	Standard	NM_014563		Approved	TRS20, SEDT, MIP-2A, ZNF547L, hYP38334	uc010nej.2	P0DI81	OTTHUMG00000021157	ENST00000380579.1:c.120C>G	X.37:g.13734771G>C	ENSP00000369953:p.Phe40Leu		A6NEG0|O14582|Q9HD16	Missense_Mutation	SNP	pfam_Sedlin,pfam_Sybindin,superfamily_Longin-like_dom	p.F40L	ENST00000380579.1	37	c.120	CCDS48082.1	X	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395679	0.83011	.	.	ENSG00000196459	ENST00000453655;ENST00000359680;ENST00000380579;ENST00000358231;ENST00000458511;ENST00000519885;ENST00000426522;ENST00000518847	D;D;D;D;D;D;D	0.91996	-2.95;-2.95;-2.95;-2.95;-2.95;-2.95;-2.95	5.27	3.44	0.39384	Longin-like (1);	0.000000	0.85682	D	0.000000	D	0.93993	0.8076	M	0.79475	2.455	0.80722	D	1	P;P	0.52842	0.812;0.956	B;P	0.59056	0.355;0.851	D	0.92643	0.6126	10	0.48119	T	0.1	25.1769	8.5967	0.33721	0.2517:0.0:0.7483:0.0	.	74;40	P0DI81-2;P0DI81	.;TPC2A_HUMAN	L	40;40;40;40;74;40;40;40	ENSP00000394629:F40L;ENSP00000352708:F40L;ENSP00000369953:F40L;ENSP00000350966:F40L;ENSP00000392495:F74L;ENSP00000430725:F40L;ENSP00000428900:F40L	ENSP00000350966:F40L	F	-	3	2	TRAPPC2	13644692	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.777000	0.62361	0.977000	0.38444	0.600000	0.82982	TTC	TRAPPC2	-	pfam_Sedlin,superfamily_Longin-like_dom	ENSG00000196459		0.443	TRAPPC2-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TRAPPC2	HGNC	protein_coding	OTTHUMT00000055805.2	63	0.00	0	G	NM_014563		13734771	13734771	-1	no_errors	ENST00000453655	ensembl	human	known	69_37n	missense	13	60.61	20	SNP	1.000	C
TRIT1	54802	genome.wustl.edu	37	1	40307548	40307548	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr1:40307548C>G	ENST00000316891.5	-	11	1286	c.1272G>C	c.(1270-1272)aaG>aaC	p.K424N	TRIT1_ENST00000537440.1_Missense_Mutation_p.K120N|TRIT1_ENST00000441669.2_Missense_Mutation_p.K342N|TRIT1_ENST00000537223.1_Missense_Mutation_p.K120N|TRIT1_ENST00000545233.1_Missense_Mutation_p.K178N|TRIT1_ENST00000491865.1_5'UTR|TRIT1_ENST00000541099.1_Missense_Mutation_p.K42N|TRIT1_ENST00000372818.1_Missense_Mutation_p.K398N	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	424					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTCTTCTTTTCTTCAGTTGGT	0.383																																						dbGAP											0													186.0	178.0	181.0					1																	40307548		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.1272G>C	1.37:g.40307548C>G	ENSP00000321810:p.Lys424Asn		A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Missense_Mutation	SNP	pfam_IPPT,pfam_Isopentenyl_transferase,pfam_Znf_C2H2_jaz,smart_Znf_U1,tigrfam_tRNA_delta_PyrP_Trfase	p.K424N	ENST00000316891.5	37	c.1272	CCDS30681.1	1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.813960	0.70912	.	.	ENSG00000043514	ENST00000046894;ENST00000372825;ENST00000441669;ENST00000316891;ENST00000372818;ENST00000534869;ENST00000545233;ENST00000537440;ENST00000537223;ENST00000541099	T;T	0.51574	0.74;0.7	5.93	5.93	0.95920	.	0.133712	0.64402	D	0.000005	T	0.57110	0.2031	N	0.24115	0.695	0.80722	D	1	P;P;D;D	0.76494	0.781;0.926;0.999;0.998	B;P;D;D	0.71414	0.334;0.749;0.973;0.94	T	0.59316	-0.7477	10	0.66056	D	0.02	-19.5961	18.5344	0.91004	0.0:1.0:0.0:0.0	.	424;398;342;120	Q9H3H1;Q9H3H1-4;Q9H3H1-5;Q3T7B5	MOD5_HUMAN;.;.;.	N	398;342;336;424;398;317;178;120;120;42	ENSP00000321810:K424N;ENSP00000361905:K398N	ENSP00000046894:K398N	K	-	3	2	TRIT1	40080135	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	4.562000	0.60816	2.826000	0.97356	0.655000	0.94253	AAG	TRIT1	-	smart_Znf_U1	ENSG00000043514		0.383	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TRIT1	HGNC	protein_coding	OTTHUMT00000025627.2	233	0.00	0	C	NM_017646		40307548	40307548	-1	no_errors	ENST00000316891	ensembl	human	known	69_37n	missense	145	38.30	90	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179449464	179449464	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr2:179449464C>G	ENST00000591111.1	-	260	60205	c.59981G>C	c.(59980-59982)cGt>cCt	p.R19994P	TTN_ENST00000589042.1_Missense_Mutation_p.R21635P|TTN_ENST00000342992.6_Missense_Mutation_p.R19067P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R12695P|TTN_ENST00000460472.2_Missense_Mutation_p.R12570P|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R12762P			Q8WZ42	TITIN_HUMAN	titin	19994	Fibronectin type-III 44. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R12695H(1)|p.R19065H(1)|p.R12570H(1)|p.R12762H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTTCAGCACGGACCCGGAA	0.488																																						dbGAP											4	Substitution - Missense(4)	large_intestine(4)											179.0	178.0	178.0					2																	179449464		1919	4115	6034	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.59981G>C	2.37:g.179449464C>G	ENSP00000465570:p.Arg19994Pro		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R19067P	ENST00000591111.1	37	c.57200		2	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277926	0.80692	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	6.17	6.17	0.99709	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83303	0.5225	M	0.92507	3.315	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.85601	0.1252	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	12570;12695;12762;19994	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	P	19067;12570;12762;12695;12568	ENSP00000343764:R19067P;ENSP00000434586:R12570P;ENSP00000340554:R12762P;ENSP00000352154:R12695P	ENSP00000340554:R12762P	R	-	2	0	TTN	179157710	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.038000	0.70964	2.941000	0.99782	0.655000	0.94253	CGT	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.488	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	330	0.00	0	C	NM_133378		179449464	179449464	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	292	13.61	46	SNP	1.000	G
TTPA	7274	genome.wustl.edu	37	8	63978649	63978649	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr8:63978649C>G	ENST00000260116.4	-	3	397	c.366G>C	c.(364-366)tgG>tgC	p.W122C	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	122	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	CTTTGGGGTCCCAGTGTGCTA	0.348																																						dbGAP											0													45.0	43.0	44.0					8																	63978649		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC058000	CCDS6178.1	8q12.3	2007-07-18	2007-07-16			ENSG00000137561			12404	protein-coding gene	gene with protein product		600415	"""ataxia (Friedreich-like) with vitamin E deficiency"""	AVED		7719340, 7887897	Standard	NM_000370		Approved		uc003xux.2	P49638		ENST00000260116.4:c.366G>C	8.37:g.63978649C>G	ENSP00000260116:p.Trp122Cys		Q71V64	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.W122C	ENST00000260116.4	37	c.366	CCDS6178.1	8	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925900	0.73327	.	.	ENSG00000137561	ENST00000260116	T	0.75477	-0.94	5.54	5.54	0.83059	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	D	0.88680	0.6502	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89995	0.4110	10	0.72032	D	0.01	.	19.4812	0.95011	0.0:1.0:0.0:0.0	.	122	P49638	TTPA_HUMAN	C	122	ENSP00000260116:W122C	ENSP00000260116:W122C	W	-	3	0	TTPA	64141203	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.170000	0.77587	2.600000	0.87896	0.655000	0.94253	TGG	TTPA	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	ENSG00000137561		0.348	TTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTPA	HGNC	protein_coding	OTTHUMT00000378460.1	108	0.00	0	C	NM_000370		63978649	63978649	-1	no_errors	ENST00000260116	ensembl	human	known	69_37n	missense	84	26.32	30	SNP	1.000	G
USP34	9736	genome.wustl.edu	37	2	61622132	61622132	+	Silent	SNP	T	T	C			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr2:61622132T>C	ENST00000398571.2	-	5	685	c.609A>G	c.(607-609)gtA>gtG	p.V203V		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	203					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATGGTACTTCTACATCCTGGG	0.323																																						dbGAP											0													74.0	64.0	67.0					2																	61622132		1834	4085	5919	-	-	-	SO:0001819	synonymous_variant	0			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.609A>G	2.37:g.61622132T>C			A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.V203	ENST00000398571.2	37	c.609	CCDS42686.1	2																																																																																			USP34	-	NULL	ENSG00000115464		0.323	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	101	0.00	0	T			61622132	61622132	-1	no_errors	ENST00000398571	ensembl	human	known	69_37n	silent	47	41.25	33	SNP	1.000	C
WBSCR28	135886	genome.wustl.edu	37	7	73279502	73279502	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr7:73279502A>G	ENST00000320531.2	+	2	288	c.252A>G	c.(250-252)atA>atG	p.I84M		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	84						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				TGGCTCTGATACAGGTCCCCG	0.697																																						dbGAP											0													41.0	47.0	45.0					7																	73279502		1930	4123	6053	-	-	-	SO:0001583	missense	0			BC030643	CCDS43597.1	7q11.23	2006-07-04			ENSG00000175877	ENSG00000175877			23018	protein-coding gene	gene with protein product		612547				8812460	Standard	NM_182504		Approved	MGC26719	uc003tzk.2	Q6UE05	OTTHUMG00000157243	ENST00000320531.2:c.252A>G	7.37:g.73279502A>G	ENSP00000316775:p.Ile84Met		Q6UE04|Q8NHP4	Missense_Mutation	SNP	NULL	p.I84M	ENST00000320531.2	37	c.252	CCDS43597.1	7	.	.	.	.	.	.	.	.	.	.	A	7.234	0.599944	0.13939	.	.	ENSG00000175877	ENST00000320531	T	0.19669	2.13	4.63	-9.25	0.00666	.	1.774340	0.02984	N	0.146052	T	0.07683	0.0193	N	0.08118	0	0.09310	N	1	B	0.21606	0.058	B	0.16289	0.015	T	0.17531	-1.0366	10	0.23891	T	0.37	0.4095	2.8987	0.05699	0.1176:0.2494:0.4675:0.1655	.	84	Q6UE05	WBS28_HUMAN	M	84	ENSP00000316775:I84M	ENSP00000316775:I84M	I	+	3	3	WBSCR28	72917438	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.676000	0.00396	-3.110000	0.00242	-1.173000	0.01734	ATA	WBSCR28	-	NULL	ENSG00000175877		0.697	WBSCR28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR28	HGNC	protein_coding	OTTHUMT00000348130.1	125	0.00	0	A	NM_182504		73279502	73279502	+1	no_errors	ENST00000320531	ensembl	human	known	69_37n	missense	89	29.69	38	SNP	0.000	G
ZGLP1	100125288	genome.wustl.edu	37	19	10415800	10415800	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr19:10415800A>T	ENST00000403903.3	-	4	1981	c.783T>A	c.(781-783)tgT>tgA	p.C261*	ZGLP1_ENST00000403352.1_Nonsense_Mutation_p.C177*	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN	zinc finger, GATA-like protein 1	261					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						GGGACACTCCACATCTGCCAC	0.572																																						dbGAP											0													74.0	78.0	77.0					19																	10415800		2061	4205	6266	-	-	-	SO:0001587	stop_gained	0			AK096830	CCDS45959.1	19p13.2	2013-01-25			ENSG00000220201	ENSG00000220201		"""GATA zinc finger domain containing"""	37245	protein-coding gene	gene with protein product	"""GATA like protein 1"", ""GATA zinc finger domain containing 3"""	611639				16982049	Standard	NM_001103167		Approved	GLP1, GLP-1, GATAD3	uc002mnw.4	P0C6A0	OTTHUMG00000152114	ENST00000403903.3:c.783T>A	19.37:g.10415800A>T	ENSP00000384434:p.Cys261*			Nonsense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_GATA,prints_Znf_GATA,pfscan_Znf_GATA	p.C261*	ENST00000403903.3	37	c.783	CCDS45959.1	19	.	.	.	.	.	.	.	.	.	.	A	44	10.733966	0.99459	.	.	ENSG00000220201	ENST00000403903;ENST00000403352	.	.	.	5.67	-3.37	0.04898	.	.	.	.	.	.	.	.	.	.	.	0.53688	D	0.999978	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0505	13.667	0.62401	0.4234:0.0:0.5766:0.0	.	.	.	.	X	261;177	.	ENSP00000385403:C177X	C	-	3	2	ZGLP1	10276800	0.531000	0.26338	0.611000	0.29010	0.081000	0.17604	-0.311000	0.08124	-0.854000	0.04131	-0.441000	0.05720	TGT	ZGLP1	-	NULL	ENSG00000220201		0.572	ZGLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZGLP1	HGNC	protein_coding	OTTHUMT00000325278.1	27	0.00	0	A	NM_001103167		10415800	10415800	-1	no_errors	ENST00000403903	ensembl	human	known	69_37n	nonsense	13	31.58	6	SNP	0.995	T
ZNF626	199777	genome.wustl.edu	37	19	20807492	20807492	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr19:20807492G>C	ENST00000601440.1	-	4	1337	c.1191C>G	c.(1189-1191)taC>taG	p.Y397*	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	397					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(1)|endometrium(1)|lung(3)|skin(1)	6						CTTCACATTTGTAGGGTTTCT	0.398																																						dbGAP											0													58.0	62.0	60.0					19																	20807492		2146	4278	6424	-	-	-	SO:0001587	stop_gained	0			BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1191C>G	19.37:g.20807492G>C	ENSP00000469958:p.Tyr397*		Q8N8T4|Q96QM1	Nonsense_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.Y397*	ENST00000601440.1	37	c.1191	CCDS42535.1	19	.	.	.	.	.	.	.	.	.	.	N	4.090	0.014725	0.07959	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	-0.351	0.12602	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.3467	0.07137	0.6248:0.0:0.3752:0.0	.	.	.	.	X	397;321;397	.	ENSP00000445201:Y397X	Y	-	3	2	ZNF626	20599332	0.000000	0.05858	0.074000	0.20217	0.074000	0.17049	-0.985000	0.03751	0.284000	0.22305	0.289000	0.19496	TAC	ZNF626	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000188171		0.398	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF626	HGNC	protein_coding	OTTHUMT00000447845.2	438	0.00	0	G	NM_145297		20807492	20807492	-1	no_errors	ENST00000305570	ensembl	human	known	69_37n	nonsense	289	37.45	173	SNP	0.222	C
ZNF578	147660	genome.wustl.edu	37	19	53007922	53007922	+	Silent	SNP	C	C	T			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr19:53007922C>T	ENST00000421239.2	+	5	322	c.78C>T	c.(76-78)ttC>ttT	p.F26F		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	26	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GCTTGACTTTCAGGGATGTGG	0.413																																						dbGAP											0													109.0	121.0	117.0					19																	53007922		2203	4295	6498	-	-	-	SO:0001819	synonymous_variant	0			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.78C>T	19.37:g.53007922C>T			B4DR51|I3L1Y6	Silent	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.F26	ENST00000421239.2	37	c.78	CCDS54310.1	19																																																																																			ZNF578	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000258405		0.413	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF578	HGNC	protein_coding	OTTHUMT00000344298.3	371	0.54	2	C	NM_152472		53007922	53007922	+1	no_errors	ENST00000421239	ensembl	human	known	69_37n	silent	193	50.89	201	SNP	0.835	T
ZNF71	58491	genome.wustl.edu	37	19	57133197	57133197	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FJ-01A-11W-A019-09	TCGA-AN-A0FJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b988737-0504-42bb-8c75-d70d7a312e68	02ed13b6-5cc2-423d-9b5a-b1c802c33569	g.chr19:57133197C>T	ENST00000328070.6	+	3	776	c.542C>T	c.(541-543)aCg>aTg	p.T181M		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CGGGTGCACACGGGCGAGAAG	0.622																																						dbGAP											0													44.0	44.0	44.0					19																	57133197		2203	4300	6503	-	-	-	SO:0001583	missense	0			X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.542C>T	19.37:g.57133197C>T	ENSP00000328245:p.Thr181Met		Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T181M	ENST00000328070.6	37	c.542	CCDS12947.1	19	.	.	.	.	.	.	.	.	.	.	C	17.84	3.486725	0.63962	.	.	ENSG00000197951	ENST00000328070	T	0.26373	1.74	3.18	2.14	0.27477	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26702	0.0653	M	0.76170	2.325	0.28310	N	0.922732	D	0.52996	0.957	B	0.38712	0.28	T	0.22836	-1.0205	9	0.87932	D	0	.	9.0305	0.36256	0.0:0.8854:0.0:0.1146	.	181	Q9NQZ8	ZNF71_HUMAN	M	181	ENSP00000328245:T181M	ENSP00000328245:T181M	T	+	2	0	ZNF71	61825009	0.653000	0.27358	0.553000	0.28255	0.939000	0.58152	1.264000	0.33015	0.546000	0.28920	0.561000	0.74099	ACG	ZNF71	-	pfscan_Znf_C2H2	ENSG00000197951		0.622	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF71	HGNC	protein_coding	OTTHUMT00000459798.2	69	0.00	0	C	NM_021216		57133197	57133197	+1	no_errors	ENST00000328070	ensembl	human	known	69_37n	missense	47	37.66	29	SNP	0.994	T
